The severity of tics in Tourette’s syndrome reaches its highest point at the age of 11 and typically decreases afterwards.

Tourette’s Syndrome: Understanding the Disorder and Management Options

Tourette’s syndrome is a type of tic disorder characterized by multiple motor tics and one of more vocal tics. Tics are sudden, involuntary movements of vocalizations that serve no apparent purpose and can be suppressed for varying periods of time. Unlike stereotyped repetitive movements seen in other disorders, tics lack rhythmicity. Manneristic motor activities tend to be more complex and variable than tics, while obsessive-compulsive acts have a defined purpose.

Tourette’s syndrome typically manifests in childhood, with a mean age of onset of six to seven years. Tics tend to peak in severity between nine and 11 years of age and may be exacerbated by external factors such as stress, inactivity, and fatigue. The estimated prevalence of Tourette’s syndrome is 1% of children, and it is more common in boys than girls. A family history of tics is also common.

Management of Tourette’s syndrome may involve pharmacological options of behavioral programs. Clonidine is recommended as first-line medication, with antipsychotics as a second-line option due to their side effect profile. Selective serotonin reuptake inhibitors (SSRIs) have not been found to be effective in suppressing tics. However, most people with tics never require medication, and behavioral programs appear to work equally as well.

Elimination Disorders

Elimination disorders refer to conditions that affect a child’s ability to control their bladder of bowel movements. Enuresis, of lack of control over the bladder, typically occurs between the ages of 1-3, while control over the bowel usually occurs before that of the bladder for most toddlers. Toilet training can be influenced by various factors, including intellectual capacity, cultural determinants, and psychological interactions between the child and their parents.

Enuresis is characterized by involuntary voiding of urine, by day and/of by night, which is abnormal in relation to the individual’s age and is not a result of any physical abnormality. It is not normally diagnosed before age 5 and may be primary (the child never having achieved continence) of secondary. Treatment options include reassurance, enuresis alarms, and medication.

Encopresis refers to repeated stool evacuation in inappropriate places in children over the age of four. The behavior can be either involuntary of intentional and may be due to unsuccessful toilet training (primary encopresis) of occur after a period of normal bowel control (secondary encopresis). Treatment generally involves bowel clearance, prevention of impaction, and behavioral therapy.

Before a diagnosis of encopresis is made, organic causes must be excluded. Hirschsprung’s disease is a condition that results from an absence of parasympathetic ganglion cells in the rectum, colon, and sometimes the small intestine. It leads to a colonic obstruction and is diagnosed in at least half of all cases in the first year of life. It is twice as common in boys than in girls.

Munchausen’s syndrome by proxy, also known as fabricated or induced illness, is a rare form of child abuse where a caregiver, usually the mother, falsifies illness in a child by fabricating of producing symptoms and presenting the child for medical care while denying knowledge of the cause. It is most commonly seen in children under the age of 4, with symptoms including apnoea, anorexia, feeding problems, and seizures. The disorder is now recognized as ‘Factitious Disorder Imposed on Another’ in the DSM-5, with criteria including falsification of physical of psychological signs of symptoms, presentation of the victim as ill, and evident deceptive behavior. The perpetrator, not the victim, receives this diagnosis. Presenting signs of symptoms can take the form of covert injury, fabrication of symptoms, of exaggeration of existing symptoms. Symptoms are often subjective and easy to fake.

Disruptive Behaviour of Dissocial Disorders

Conduct disorders are the most common reason for referral of young children to mental health services. These disorders are characterized by a repetitive and persistent pattern of antisocial, aggressive, of defiant conduct that goes beyond ordinary childish mischief of adolescent rebelliousness. Oppositional defiant disorder (ODD) shares some negative attributes but in a more limited fashion.

ICD-11 terms the disorder as ‘Conduct-dissocial disorder’, while DSM-5 recognizes three separate conditions related to emotional/behavioral problems seen in younger people: conduct disorder, oppositional defiant disorder, and intermittent explosive disorder. Conduct disorder is about poorly controlled behavior, intermittent explosive disorder is about poorly controlled emotions, and ODD is in between. Conduct disorders are further divided into childhood onset (before 10 years) and adolescent onset (10 years of older).

The behavior pattern of conduct disorders must be persistent and recurrent, including multiple incidents of aggression towards people of animals, destruction of property, deceitfulness of theft, and serious violations of rules. The pattern of behavior must result in significant impairment in personal, family, social, educational, occupational, of other important areas of functioning.

Oppositional defiant disorder represents a less severe form of conduct disorder, where there is an absence of more severe dissocial of aggressive acts. The behavior pattern of ODD includes persistent difficulty getting along with others, provocative, spiteful, of vindictive behavior, and extreme irritability of anger.

The prevalence of conduct disorders increases throughout childhood and is more common in boys than girls. The most frequent comorbid problem seen with conduct disorder is hyperactivity. The conversion rate from childhood conduct disorder to adult antisocial personality disorder varies from 40 to 70% depending on the study.

NICE recommends group parent-based training programs of parent and child training programs for children with complex needs for ages 3-11, child-focused programs for ages 9-14, and multimodal interventions with a family focus for ages 11-17. Medication is not recommended in routine practice, but risperidone can be used where other approaches fail and they are seriously aggressive.

Stereotypies are generally not inhibited and do not cause discomfort to those who exhibit them. On the contrary, they seem to have a calming effect.

Tourette’s Syndrome: Understanding the Disorder and Management Options

Tourette’s syndrome is a type of tic disorder characterized by multiple motor tics and one of more vocal tics. Tics are sudden, involuntary movements of vocalizations that serve no apparent purpose and can be suppressed for varying periods of time. Unlike stereotyped repetitive movements seen in other disorders, tics lack rhythmicity. Manneristic motor activities tend to be more complex and variable than tics, while obsessive-compulsive acts have a defined purpose.

Tourette’s syndrome typically manifests in childhood, with a mean age of onset of six to seven years. Tics tend to peak in severity between nine and 11 years of age and may be exacerbated by external factors such as stress, inactivity, and fatigue. The estimated prevalence of Tourette’s syndrome is 1% of children, and it is more common in boys than girls. A family history of tics is also common.

Management of Tourette’s syndrome may involve pharmacological options of behavioral programs. Clonidine is recommended as first-line medication, with antipsychotics as a second-line option due to their side effect profile. Selective serotonin reuptake inhibitors (SSRIs) have not been found to be effective in suppressing tics. However, most people with tics never require medication, and behavioral programs appear to work equally as well.

If a patient presents with both treatment resistant psychosis and executive dysfunction, it may be worth considering Niemann-Pick disease. Additionally, if a patient experiences treatment resistant anxiety symptoms accompanied by tachycardia, a pheochromocytoma should be considered. In cases where a patient exhibits personality changes and attentional issues in adulthood, along with irritability, aggression, and jaundice, it may suggest a mixed presentation of Wilson’s disease.

Niemann-Pick disease is a group of inherited diseases where lipids accumulate in the cells of the liver, spleen, and brain. Niemann-Pick Type C (NPC) is the most relevant type for psychiatric presentations, with about one-third of cases presenting in adolescence of adulthood. Symptoms include progressive ataxia/dystonia, cognitive decline, and atypical psychotic symptoms. There are four other types of Niemann-Pick disease, each with their own causes and symptoms. Type A and B have a lack of sphingomyelinase and present in early childhood of mid-childhood/adolescence, respectively. Type C has reduced sphingomyelinase activity and can present at any age, with symptoms including enlarged liver and spleen, learning difficulties, seizures, and slurred speech. Type D is a variant of Type C and has similar symptoms. Type E has reduced sphingomyelinase activity and presents in adulthood with similar symptoms to the other types.

The presence of suicide as one of the top five causes of death in those aged 15-19, along with road traffic accidents and violence, highlights the seriousness of the issue. Any instance of self-harm in young people should be treated with great concern as it increases the likelihood of eventual suicide. The decision to admit a young person should be based on their level of risk, rather than solely on the presence of absence of a mental illness.

Self-harm is a common issue among young people, particularly girls, with rates appearing to have risen over the past decade. It is most likely to occur between the ages of 12 and 15 years and is associated with a range of psychiatric problems. Short-term management involves a psychosocial assessment and consideration of activated charcoal for drug overdose. Longer-term management may involve psychological interventions, but drug treatment should not be offered as a specific intervention to reduce self-harm. Risk assessment tools should not be used to predict future suicide of repetition of self-harm, but certain factors such as male gender, substance misuse, and parental mental disorder may be associated with a higher risk of completed suicide. It is important to seek professional help if you of someone you know is engaging in self-harm.

Desmopressin is an artificial version of vasopressin and is approved for treating primary nocturnal enuresis in children aged 5 to 17. The recommended dosage is 200 mcg once daily. When taken with loperamide, desmopressin plasma concentrations can increase by up to three times. To ensure optimal effectiveness, children should avoid drinking fluids for one hour before and eight hours after taking desmopressin, according to the British National Formulary (BNF).

Elimination Disorders

Elimination disorders refer to conditions that affect a child’s ability to control their bladder of bowel movements. Enuresis, of lack of control over the bladder, typically occurs between the ages of 1-3, while control over the bowel usually occurs before that of the bladder for most toddlers. Toilet training can be influenced by various factors, including intellectual capacity, cultural determinants, and psychological interactions between the child and their parents.

Enuresis is characterized by involuntary voiding of urine, by day and/of by night, which is abnormal in relation to the individual’s age and is not a result of any physical abnormality. It is not normally diagnosed before age 5 and may be primary (the child never having achieved continence) of secondary. Treatment options include reassurance, enuresis alarms, and medication.

Encopresis refers to repeated stool evacuation in inappropriate places in children over the age of four. The behavior can be either involuntary of intentional and may be due to unsuccessful toilet training (primary encopresis) of occur after a period of normal bowel control (secondary encopresis). Treatment generally involves bowel clearance, prevention of impaction, and behavioral therapy.

Before a diagnosis of encopresis is made, organic causes must be excluded. Hirschsprung’s disease is a condition that results from an absence of parasympathetic ganglion cells in the rectum, colon, and sometimes the small intestine. It leads to a colonic obstruction and is diagnosed in at least half of all cases in the first year of life. It is twice as common in boys than in girls.

ADHD (Diagnosis and Management in Children)

ADHD is a behavioural syndrome characterised by symptoms of inattention, hyperactivity, and impulsivity. The DSM-5 and ICD-11 provide diagnostic criteria for the condition, with both recognising three subtypes: predominantly inattentive, predominantly hyperactive-impulsive, and combined.

Treatment for children under 5 involves offering an ADHD-focused group parent-training programme as a first-line option. Medication should only be considered after obtaining advice from a specialist ADHD service. For children and young people aged 5-18, advice and support should be given, along with an ADHD-focused group parent-training programme. Medication should only be offered if ADHD symptoms persist after environmental modifications have been implemented and reviewed. Cognitive behavioural therapy may also be considered for those who have benefited from medication but still experience significant impairment.

NICE advises against elimination diets, dietary fatty acid supplementation, and the use of the ‘few foods diet’. Methylphenidate of lisdexamfetamine is the first-line medication option, with dexamphetamine considered for those who respond to lisdexamfetamine but cannot tolerate the longer effect profile. Atomoxetine of guanfacine may be offered for those who cannot tolerate methylphenidate of lisdexamfetamine. Clonidine and atypical antipsychotics should only be used with advice from a tertiary ADHD service.

Drug holidays may be considered for children and young people who have not met the expected height for their age due to medication. However, NICE advises that withdrawal from treatment is associated with a risk of symptom exacerbation.

The condition associated with flapping hand movements is either Angelman syndrome of Fragile X, while hyperphagia is a symptom of Prader-Willi syndrome. Overlapping of fingers over thumb is seen in Patau syndrome, and pronounced self-injurious behavior is a feature of Lesch-Nyhan syndrome of Smith-Magenis syndrome. DiGeorge syndrome is typically caused by a deletion on chromosome 22 and presents with a variety of symptoms, including cardiac abnormalities (tetralogy of Fallot), abnormal facies (almond-shaped eyes, low-set ears), thymic aplasia (leading to recurrent infections), cleft palate, and hypocalcemia/hypoparathyroidism (resulting in short stature and seizures). Learning disabilities are also common in individuals with DiGeorge syndrome, and they may also be at increased risk for psychiatric conditions such as depression, ADHD, and schizophrenia.

Genetic Conditions and Their Features

Genetic conditions are disorders caused by abnormalities in an individual’s DNA. These conditions can affect various aspects of a person’s health, including physical and intellectual development. Some of the most common genetic conditions and their features are:

– Downs (trisomy 21): Short stature, almond-shaped eyes, low muscle tone, and intellectual disability.
– Angelman syndrome (Happy puppet syndrome): Flapping hand movements, ataxia, severe learning disability, seizures, and sleep problems.
– Prader-Willi: Hyperphagia, excessive weight gain, short stature, and mild learning disability.
– Cri du chat: Characteristic cry, hypotonia, down-turned mouth, and microcephaly.
– Velocardiofacial syndrome (DiGeorge syndrome): Cleft palate, cardiac problems, and learning disabilities.
– Edwards syndrome (trisomy 18): Severe intellectual disability, kidney malformations, and physical abnormalities.
– Lesch-Nyhan syndrome: Self-mutilation, dystonia, and writhing movements.
– Smith-Magenis syndrome: Pronounced self-injurious behavior, self-hugging, and a hoarse voice.
– Fragile X: Elongated face, large ears, hand flapping, and shyness.
– Wolf Hirschhorn syndrome: Mild to severe intellectual disability, seizures, and physical abnormalities.
– Patau syndrome (trisomy 13): Severe intellectual disability, congenital heart malformations, and physical abnormalities.
– Rett syndrome: Regression and loss of skills, hand-wringing movements, and profound learning disability.
– Tuberous sclerosis: Hamartomatous tumors, epilepsy, and behavioral issues.
– Williams syndrome: Elfin-like features, social disinhibition, and advanced verbal skills.
– Rubinstein-Taybi syndrome: Short stature, friendly disposition, and moderate learning disability.
– Klinefelter syndrome: Extra X chromosome, low testosterone, and speech and language issues.
– Jakob’s syndrome: Extra Y chromosome, tall stature, and lower mean intelligence.
– Coffin-Lowry syndrome: Short stature, slanting eyes, and severe learning difficulty.
– Turner syndrome: Short stature, webbed neck, and absent periods.
– Niemann Pick disease (types A and B): Abdominal swelling, cherry red spot, and feeding difficulties.

It is important to note that these features may vary widely among individuals with the same genetic condition. Early diagnosis and intervention can help individuals with genetic conditions reach their full potential and improve their quality of life.

Genomic Imprinting and its Role in Psychiatric Disorders

Genomic imprinting is a phenomenon where a piece of DNA behaves differently depending on whether it is inherited from the mother of the father. This is because DNA sequences are marked of imprinted in the ovaries and testes, which affects their expression. In psychiatry, two classic examples of genomic imprinting disorders are Prader-Willi and Angelman syndrome.

Prader-Willi syndrome is caused by a deletion of chromosome 15q when inherited from the father. This disorder is characterized by hypotonia, short stature, polyphagia, obesity, small gonads, and mild mental retardation. On the other hand, Angelman syndrome, also known as Happy Puppet syndrome, is caused by a deletion of 15q when inherited from the mother. This disorder is characterized by an unusually happy demeanor, developmental delay, seizures, sleep disturbance, and jerky hand movements.

Overall, genomic imprinting plays a crucial role in the development of psychiatric disorders. Understanding the mechanisms behind genomic imprinting can help in the diagnosis and treatment of these disorders.

Massed Negative Practice in the Treatment of Tourette’s Syndrome

Massed negative practice is a technique used to treat Tourette’s syndrome. It involves having the patient repeatedly perform their tic until they reach a level of fatigue. This technique is used to condition the patient’s response to their tic. By repeatedly performing the tic, the patient becomes desensitized to it, and the tic may eventually decrease in frequency of intensity. Massed negative practice is a behavioural technique that can be effective in managing the symptoms of Tourette’s syndrome.

Tourette’s syndrome is evident in the child, displaying both motor and vocal tics, along with palilalia and echolalia. Tic disorders are typically linked to dysfunction in the caudate nucleus, which is a component of the basal ganglia.

The genetic polymorphisms that are associated with the development of hyperkinetic disorder (ADHD) include dopamine transporter (DAT1) and dopamine receptor related (DRD4). On the other hand, DBP, DISC1, and NRG are polymorphisms that are relevant to schizophrenia, while APP is associated with Alzheimer’s disease. Additionally, the DISC1 gene is believed to increase the likelihood of developing bipolar disorder and major depressive disorder.

Tourette’s tics are often accompanied by strong urges that are difficult to resist and can be painful, causing significant mental distress for some individuals. After performing a tic, there is often a brief sense of physical relief of a reduction in inner tension, indicating the involvement of reward pathways in the brain. Interestingly, activities that require focused attention and fine motor skills, such as playing a musical instrument of engaging in certain sports, can temporarily improve tics. Dr. Carl Bennett, a surgeon in British Columbia who has Tourette’s, is an example of someone who has found ways to manage his symptoms through his work and hobbies. More information about his story can be found in Oliver Sacks’ book, An Anthropologist on Mars (1995).

Tourette’s Syndrome: Understanding the Disorder and Management Options

Tourette’s syndrome is a type of tic disorder characterized by multiple motor tics and one of more vocal tics. Tics are sudden, involuntary movements of vocalizations that serve no apparent purpose and can be suppressed for varying periods of time. Unlike stereotyped repetitive movements seen in other disorders, tics lack rhythmicity. Manneristic motor activities tend to be more complex and variable than tics, while obsessive-compulsive acts have a defined purpose.

Tourette’s syndrome typically manifests in childhood, with a mean age of onset of six to seven years. Tics tend to peak in severity between nine and 11 years of age and may be exacerbated by external factors such as stress, inactivity, and fatigue. The estimated prevalence of Tourette’s syndrome is 1% of children, and it is more common in boys than girls. A family history of tics is also common.

Management of Tourette’s syndrome may involve pharmacological options of behavioral programs. Clonidine is recommended as first-line medication, with antipsychotics as a second-line option due to their side effect profile. Selective serotonin reuptake inhibitors (SSRIs) have not been found to be effective in suppressing tics. However, most people with tics never require medication, and behavioral programs appear to work equally as well.

Night Terrors: Understanding the Condition

Night terrors, also known as pavor nocturnus of sleep terrors, are a common occurrence in children aged 3-12, with the majority of cases happening when a child is 3-4 years old. Both boys and girls are equally affected, and the condition usually resolves on its own during adolescence, although it can still occur in adults. These episodes typically last between 1 to 15 minutes and occur 1 to 3 hours after sleep has begun.

Night terrors are different from nightmares, which occur during REM sleep. Night terrors happen during the transition from stage 3 to stage 4 sleep, and children have no memory of the event the next morning. During a night terror, a child experiences intense crying and distress while asleep, usually around 90 minutes after falling asleep. They are unresponsive to external stimuli during this time.

Night terrors are distinct from nightmares in several ways. For example, there is no recall of the event with night terrors, while there may be partial recall with nightmares. Night terrors occur early in sleep, while nightmares occur later. Additionally, night terrors are associated with significant autonomic arousal, while nightmares have minimal arousal.

It is important to note that the information presented here is based on the Rechtschaffen and Kales sleep classification model developed in 1968, which is the classification used in the Royal College questions. However, in 2004, the American Academy of Sleep Medicine (AASM) reclassified NREM (non-REM) sleep into three stages, the last of which is also called delta sleep of slow-wave sleep.

Pemoline, which is utilized to treat ADHD as a CNS stimulant, has been linked to severe liver failure that can be fatal.

ADHD (Diagnosis and Management in Children)

ADHD is a behavioural syndrome characterised by symptoms of inattention, hyperactivity, and impulsivity. The DSM-5 and ICD-11 provide diagnostic criteria for the condition, with both recognising three subtypes: predominantly inattentive, predominantly hyperactive-impulsive, and combined.

Treatment for children under 5 involves offering an ADHD-focused group parent-training programme as a first-line option. Medication should only be considered after obtaining advice from a specialist ADHD service. For children and young people aged 5-18, advice and support should be given, along with an ADHD-focused group parent-training programme. Medication should only be offered if ADHD symptoms persist after environmental modifications have been implemented and reviewed. Cognitive behavioural therapy may also be considered for those who have benefited from medication but still experience significant impairment.

NICE advises against elimination diets, dietary fatty acid supplementation, and the use of the ‘few foods diet’. Methylphenidate of lisdexamfetamine is the first-line medication option, with dexamphetamine considered for those who respond to lisdexamfetamine but cannot tolerate the longer effect profile. Atomoxetine of guanfacine may be offered for those who cannot tolerate methylphenidate of lisdexamfetamine. Clonidine and atypical antipsychotics should only be used with advice from a tertiary ADHD service.

Drug holidays may be considered for children and young people who have not met the expected height for their age due to medication. However, NICE advises that withdrawal from treatment is associated with a risk of symptom exacerbation.

PANDAS: A Disorder Linked to Streptococcal Infections

PANDAS, of Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections, is a condition that affects children who develop sudden onset of obsessive-compulsive disorder (OCD) and/of tic disorders like Tourette’s Syndrome after contracting strep infections such as Strep throat of Scarlet Fever. The National Institute of Mental Health (NIMH) has identified five criteria for diagnosing PANDAS, including the presence of OCD and/of tic disorder, pediatric onset of symptoms, episodic course of symptom severity, association with group A Beta-hemolytic streptococcal infection, and association with neurological abnormalities. The anti streptococcal DNAse B (Anti DNAse-B) titre is commonly used to determine if there is immunologic evidence of a previous strep infection. PANDAS is linked to basal ganglia dysfunction.

Night Terrors: Understanding the Condition

Night terrors, also known as pavor nocturnus of sleep terrors, are a common occurrence in children aged 3-12, with the majority of cases happening when a child is 3-4 years old. Both boys and girls are equally affected, and the condition usually resolves on its own during adolescence, although it can still occur in adults. These episodes typically last between 1 to 15 minutes and occur 1 to 3 hours after sleep has begun.

Night terrors are different from nightmares, which occur during REM sleep. Night terrors happen during the transition from stage 3 to stage 4 sleep, and children have no memory of the event the next morning. During a night terror, a child experiences intense crying and distress while asleep, usually around 90 minutes after falling asleep. They are unresponsive to external stimuli during this time.

Night terrors are distinct from nightmares in several ways. For example, there is no recall of the event with night terrors, while there may be partial recall with nightmares. Night terrors occur early in sleep, while nightmares occur later. Additionally, night terrors are associated with significant autonomic arousal, while nightmares have minimal arousal.

It is important to note that the information presented here is based on the Rechtschaffen and Kales sleep classification model developed in 1968, which is the classification used in the Royal College questions. However, in 2004, the American Academy of Sleep Medicine (AASM) reclassified NREM (non-REM) sleep into three stages, the last of which is also called delta sleep of slow-wave sleep.

Risk Factors for ADHD

There are several risk factors associated with the development of ADHD. According to the NICE guidelines, these include maternal smoking, alcohol consumption, and heroin use during pregnancy, as well as low birth weight and fetal hypoxia. Additionally, severe early psychosocial adversity has also been identified as a potential risk factor for ADHD. This refers to experiences of significant stress of trauma during early childhood, such as abuse, neglect, of exposure to violence. These factors can have a lasting impact on a child’s development and may contribute to the development of ADHD symptoms. It is important for healthcare professionals to be aware of these risk factors and to provide appropriate support and interventions to children and families who may be affected.

The highest correlation between maternal smoking and negative behaviors is found in externalizing problems such as ADHD and conduct disorder.

Prenatal Smoking and Risks for Offspring Psychiatric Problems

Prenatal smoking has been linked to various psychiatric problems in offspring, as reported by Indredavik (2007). The most consistent finding is the association between maternal smoking during pregnancy and attention-deficit hyperactivity disorder (ADHD) and conduct disorder. However, there are fewer reports on internalizing symptoms such as anxiety and depression. Additionally, there is one report suggesting an increased risk of autism associated with smoking exposure in utero. These findings highlight the potential risks of prenatal smoking on offspring mental health and emphasize the importance of smoking cessation during pregnancy.

Ekbom syndrome refers to two distinct syndromes. The first is known as delusional parasitosis, which is characterized by the false belief that the skin is infested with parasites. The second, also known as Willis-Ekbom syndrome, is restless legs syndrome, which causes uncomfortable sensations in the limbs that disrupt sleep. While European physicians tend to use the term to refer to delusional parasitosis, Americans typically use it to describe restless legs syndrome.

Lesch-Nyhan syndrome is a genetic disorder that results in congenital mental retardation. It is caused by mutations in the HPRT gene on the X chromosome, which leads to defective purine metabolism and severe self-injury. The HPRT gene codes for an enzyme called hypoxanthine phosphoribosyltransferase 1, which is responsible for recycling purines. When this enzyme is absent, purines are broken down but not recycled, resulting in abnormally high levels of uric acid.

Rett syndrome is a developmental disorder that primarily affects girls and is caused by an X-linked dominant mutation. It is characterized by acquired microcephaly, a reversal of cognitive and social development, ataxia, and stereotypic hand movements and manual dyspraxia known as hand-wringing.

Tourette’s Syndrome: Understanding the Disorder and Management Options

Tourette’s syndrome is a type of tic disorder characterized by multiple motor tics and one of more vocal tics. Tics are sudden, involuntary movements of vocalizations that serve no apparent purpose and can be suppressed for varying periods of time. Unlike stereotyped repetitive movements seen in other disorders, tics lack rhythmicity. Manneristic motor activities tend to be more complex and variable than tics, while obsessive-compulsive acts have a defined purpose.

Tourette’s syndrome typically manifests in childhood, with a mean age of onset of six to seven years. Tics tend to peak in severity between nine and 11 years of age and may be exacerbated by external factors such as stress, inactivity, and fatigue. The estimated prevalence of Tourette’s syndrome is 1% of children, and it is more common in boys than girls. A family history of tics is also common.

Management of Tourette’s syndrome may involve pharmacological options of behavioral programs. Clonidine is recommended as first-line medication, with antipsychotics as a second-line option due to their side effect profile. Selective serotonin reuptake inhibitors (SSRIs) have not been found to be effective in suppressing tics. However, most people with tics never require medication, and behavioral programs appear to work equally as well.

The presence of conduct disorder alone does not alter the primary treatment recommendation for ADHD. Atomoxetine, which is less effective than methylphenidate, would only be considered if there is a concern about the potential for misuse of diversion.

ADHD (Diagnosis and Management in Children)

ADHD is a behavioural syndrome characterised by symptoms of inattention, hyperactivity, and impulsivity. The DSM-5 and ICD-11 provide diagnostic criteria for the condition, with both recognising three subtypes: predominantly inattentive, predominantly hyperactive-impulsive, and combined.

Treatment for children under 5 involves offering an ADHD-focused group parent-training programme as a first-line option. Medication should only be considered after obtaining advice from a specialist ADHD service. For children and young people aged 5-18, advice and support should be given, along with an ADHD-focused group parent-training programme. Medication should only be offered if ADHD symptoms persist after environmental modifications have been implemented and reviewed. Cognitive behavioural therapy may also be considered for those who have benefited from medication but still experience significant impairment.

NICE advises against elimination diets, dietary fatty acid supplementation, and the use of the ‘few foods diet’. Methylphenidate of lisdexamfetamine is the first-line medication option, with dexamphetamine considered for those who respond to lisdexamfetamine but cannot tolerate the longer effect profile. Atomoxetine of guanfacine may be offered for those who cannot tolerate methylphenidate of lisdexamfetamine. Clonidine and atypical antipsychotics should only be used with advice from a tertiary ADHD service.

Drug holidays may be considered for children and young people who have not met the expected height for their age due to medication. However, NICE advises that withdrawal from treatment is associated with a risk of symptom exacerbation.

Night terrors happen when a person is transitioning from stage 3 to stage 4 of sleep.

Night Terrors: Understanding the Condition

Night terrors, also known as pavor nocturnus of sleep terrors, are a common occurrence in children aged 3-12, with the majority of cases happening when a child is 3-4 years old. Both boys and girls are equally affected, and the condition usually resolves on its own during adolescence, although it can still occur in adults. These episodes typically last between 1 to 15 minutes and occur 1 to 3 hours after sleep has begun.

Night terrors are different from nightmares, which occur during REM sleep. Night terrors happen during the transition from stage 3 to stage 4 sleep, and children have no memory of the event the next morning. During a night terror, a child experiences intense crying and distress while asleep, usually around 90 minutes after falling asleep. They are unresponsive to external stimuli during this time.

Night terrors are distinct from nightmares in several ways. For example, there is no recall of the event with night terrors, while there may be partial recall with nightmares. Night terrors occur early in sleep, while nightmares occur later. Additionally, night terrors are associated with significant autonomic arousal, while nightmares have minimal arousal.

It is important to note that the information presented here is based on the Rechtschaffen and Kales sleep classification model developed in 1968, which is the classification used in the Royal College questions. However, in 2004, the American Academy of Sleep Medicine (AASM) reclassified NREM (non-REM) sleep into three stages, the last of which is also called delta sleep of slow-wave sleep.

Flumazenil is commonly used, but it lacks official licensing. Naloxone administration is determined by clinical symptoms rather than drug potency and duration of action. Tissue adhesive is recommended as the primary treatment option. Activated charcoal is most effective when given within an hour of ingestion (of up to two hours at most), especially in cases of tricyclic overdose, which can slow gastric emptying.

Self-harm is a common issue among young people, particularly girls, with rates appearing to have risen over the past decade. It is most likely to occur between the ages of 12 and 15 years and is associated with a range of psychiatric problems. Short-term management involves a psychosocial assessment and consideration of activated charcoal for drug overdose. Longer-term management may involve psychological interventions, but drug treatment should not be offered as a specific intervention to reduce self-harm. Risk assessment tools should not be used to predict future suicide of repetition of self-harm, but certain factors such as male gender, substance misuse, and parental mental disorder may be associated with a higher risk of completed suicide. It is important to seek professional help if you of someone you know is engaging in self-harm.

Childhood Fear: Normal Development

It is normal for children to experience fear and anxiety as they grow and develop. According to Marks’ ‘ontogenetic parade’ theory, children’s fears follow a predictable pattern throughout their development. In the preschool years, children may fear imaginary creatures, animals, strangers, and their environment. As they enter middle childhood, fears of physical danger, bodily injury, and school performance become more prominent. During adolescence, fears about social evaluations and interactions become more common.

Gullone’s research in 1999 identified specific fears that are prominent at different ages. For example, towards the end of the first year, children may fear strangers, heights, and separation anxiety. In preschool years, fears of being alone, the dark, and animals are common. During the school years, children may fear bodily injury, illness, social situations, supernatural phenomena, failure, and criticism. Finally, in adolescence, fears about death, economic and political concerns may persist.

Overall, fear and anxiety are a normal part of child development, and parents and caregivers can support children by acknowledging their fears and helping them develop coping strategies.

A long-acting version of methylphenidate is Medikinet XL, which is recommended for ADHD cases where stimulant use leads to complications with tics.

ADHD (Diagnosis and Management in Children)

ADHD is a behavioural syndrome characterised by symptoms of inattention, hyperactivity, and impulsivity. The DSM-5 and ICD-11 provide diagnostic criteria for the condition, with both recognising three subtypes: predominantly inattentive, predominantly hyperactive-impulsive, and combined.

Treatment for children under 5 involves offering an ADHD-focused group parent-training programme as a first-line option. Medication should only be considered after obtaining advice from a specialist ADHD service. For children and young people aged 5-18, advice and support should be given, along with an ADHD-focused group parent-training programme. Medication should only be offered if ADHD symptoms persist after environmental modifications have been implemented and reviewed. Cognitive behavioural therapy may also be considered for those who have benefited from medication but still experience significant impairment.

NICE advises against elimination diets, dietary fatty acid supplementation, and the use of the ‘few foods diet’. Methylphenidate of lisdexamfetamine is the first-line medication option, with dexamphetamine considered for those who respond to lisdexamfetamine but cannot tolerate the longer effect profile. Atomoxetine of guanfacine may be offered for those who cannot tolerate methylphenidate of lisdexamfetamine. Clonidine and atypical antipsychotics should only be used with advice from a tertiary ADHD service.

Drug holidays may be considered for children and young people who have not met the expected height for their age due to medication. However, NICE advises that withdrawal from treatment is associated with a risk of symptom exacerbation.

Disruptive Behaviour of Dissocial Disorders

Conduct disorders are the most common reason for referral of young children to mental health services. These disorders are characterized by a repetitive and persistent pattern of antisocial, aggressive, of defiant conduct that goes beyond ordinary childish mischief of adolescent rebelliousness. Oppositional defiant disorder (ODD) shares some negative attributes but in a more limited fashion.

ICD-11 terms the disorder as ‘Conduct-dissocial disorder’, while DSM-5 recognizes three separate conditions related to emotional/behavioral problems seen in younger people: conduct disorder, oppositional defiant disorder, and intermittent explosive disorder. Conduct disorder is about poorly controlled behavior, intermittent explosive disorder is about poorly controlled emotions, and ODD is in between. Conduct disorders are further divided into childhood onset (before 10 years) and adolescent onset (10 years of older).

The behavior pattern of conduct disorders must be persistent and recurrent, including multiple incidents of aggression towards people of animals, destruction of property, deceitfulness of theft, and serious violations of rules. The pattern of behavior must result in significant impairment in personal, family, social, educational, occupational, of other important areas of functioning.

Oppositional defiant disorder represents a less severe form of conduct disorder, where there is an absence of more severe dissocial of aggressive acts. The behavior pattern of ODD includes persistent difficulty getting along with others, provocative, spiteful, of vindictive behavior, and extreme irritability of anger.

The prevalence of conduct disorders increases throughout childhood and is more common in boys than girls. The most frequent comorbid problem seen with conduct disorder is hyperactivity. The conversion rate from childhood conduct disorder to adult antisocial personality disorder varies from 40 to 70% depending on the study.

NICE recommends group parent-based training programs of parent and child training programs for children with complex needs for ages 3-11, child-focused programs for ages 9-14, and multimodal interventions with a family focus for ages 11-17. Medication is not recommended in routine practice, but risperidone can be used where other approaches fail and they are seriously aggressive.

School refusal typically occurs when children are transitioning between schools, particularly from primary to secondary school, which usually happens between the ages of 10 and 13. It affects both boys and girls equally. The primary cause of school refusal is social anxiety, which arises from having to navigate new situations such as making friends on the playground and adapting to new teachers. It is important to note that school refusal is not related to a child’s academic performance.

Understanding School Refusal

School refusal is a common problem that affects 1-5% of children, with similar rates in both boys and girls. Although it can occur at any age, it is more common in children aged five, six, 10, and 11 years. Unlike truancy, school refusal is not a formal diagnosis and is characterized by severe distress about attending school, often manifesting as temper tantrums and somatic symptoms. Parents are generally aware of the absence, and there is no antisocial behavior present. Children with school refusal often have a desire and willingness to do school work at home, whereas those who are truant show little interest in school work in any setting.

The onset of school refusal symptoms is usually gradual and may occur after a holiday of illness. Stressful events at home of school, of with peers, may also cause school refusal. Presenting symptoms include fearfulness, panic symptoms, crying episodes, temper tantrums, threats of self-harm, and somatic symptoms that present in the morning and improve if the child is allowed to stay home.

Behavioural approaches, primarily exposure-based treatments, are used to treat school refusal. However, it is important to note that school refusal is not a diagnosis but a presenting problem that may be linked to other diagnoses such as separation anxiety disorder, generalized anxiety disorder, depression, oppositional defiant disorder, learning disorders, and pervasive developmental disabilities such as Asperger’s disorder, autism, and mental retardation.

Inheritance Patterns and Examples

Autosomal Dominant:
Neurofibromatosis type 1 and 2, tuberous sclerosis, achondroplasia, Huntington disease, and Noonan’s syndrome are all examples of conditions that follow an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene is needed to cause the condition.

Autosomal Recessive:
Phenylketonuria, homocystinuria, Hurler’s syndrome, galactosaemia, Tay-Sach’s disease, Friedreich’s ataxia, Wilson’s disease, and cystic fibrosis are all examples of conditions that follow an autosomal recessive inheritance pattern. This means that two copies of the mutated gene are needed to cause the condition.

X-Linked Dominant:
Vitamin D resistant rickets and Rett syndrome are examples of conditions that follow an X-linked dominant inheritance pattern. This means that the mutated gene is located on the X chromosome and only one copy of the gene is needed to cause the condition.

X-Linked Recessive:
Cerebellar ataxia, Hunter’s syndrome, and Lesch-Nyhan are examples of conditions that follow an X-linked recessive inheritance pattern. This means that the mutated gene is located on the X chromosome and two copies of the gene are needed to cause the condition.

Mitochondrial:
Leber’s hereditary optic neuropathy and Kearns-Sayre syndrome are examples of conditions that follow a mitochondrial inheritance pattern. This means that the mutated gene is located in the mitochondria and is passed down from the mother to her offspring.

Elimination Disorders

Elimination disorders refer to conditions that affect a child’s ability to control their bladder of bowel movements. Enuresis, of lack of control over the bladder, typically occurs between the ages of 1-3, while control over the bowel usually occurs before that of the bladder for most toddlers. Toilet training can be influenced by various factors, including intellectual capacity, cultural determinants, and psychological interactions between the child and their parents.

Enuresis is characterized by involuntary voiding of urine, by day and/of by night, which is abnormal in relation to the individual’s age and is not a result of any physical abnormality. It is not normally diagnosed before age 5 and may be primary (the child never having achieved continence) of secondary. Treatment options include reassurance, enuresis alarms, and medication.

Encopresis refers to repeated stool evacuation in inappropriate places in children over the age of four. The behavior can be either involuntary of intentional and may be due to unsuccessful toilet training (primary encopresis) of occur after a period of normal bowel control (secondary encopresis). Treatment generally involves bowel clearance, prevention of impaction, and behavioral therapy.

Before a diagnosis of encopresis is made, organic causes must be excluded. Hirschsprung’s disease is a condition that results from an absence of parasympathetic ganglion cells in the rectum, colon, and sometimes the small intestine. It leads to a colonic obstruction and is diagnosed in at least half of all cases in the first year of life. It is twice as common in boys than in girls.

Child Abuse: Risk Factors and Protective Factors

Child abuse is a serious problem that can have long-lasting effects on a child’s physical and emotional well-being. There are several risk factors that increase the likelihood of child abuse occurring. These include a history of abuse in the caregiver, substance misuse in the caregiver, inaccurate knowledge about child development, teenage parents, children of single parents, domestic violence in the home, high levels of stress within the family, younger children, children with disabilities, poverty, social isolation, and living in a dangerous neighborhood.

However, there are also protective factors that can help prevent child abuse from occurring. These include parental resilience, social connections, knowledge of parenting and child development, concrete support in times of need, and social and emotional competence of children. By promoting these protective factors, we can help reduce the risk of child abuse and create a safer and healthier environment for children to grow and thrive.

According to current evidence, there is no connection between autism spectrum disorder (ASD) risk and various environmental factors such as vaccination, maternal smoking, thimerosal exposure, and assisted reproductive technologies (Modabbernia, 2017).

Autism Spectrum Disorder (ASD) is a lifelong disorder characterized by deficits in communication and social understanding, as well as restrictive and repetitive behaviors. The distinction between autism and Asperger’s has been abandoned, and they are now grouped together under the ASD category. Intellectual ability is difficult to assess in people with ASD, with an estimated 33% having an intellectual disability. ASD was first described in Europe and the United States using different terms, with Leo Kanner and Hans Asperger being the pioneers. Diagnosis is based on persistent deficits in social communication and social interaction, as well as restricted, repetitive patterns of behavior. The worldwide population prevalence is about 1%, with comorbidity being common. Heritability is estimated at around 90%, and both genetic and environmental factors seem to cause ASD. Currently, there are no validated pharmacological treatments that alleviate core ASD symptoms, but second-generation antipsychotics are the first-line pharmacological treatment for children and adolescents with ASD and associated irritability.

According to the NICE guidelines from 2006, the behavior described is indicative of conduct disorder and group-based parental training/educational programs are recommended for managing children with this disorder.

Disruptive Behaviour of Dissocial Disorders

Conduct disorders are the most common reason for referral of young children to mental health services. These disorders are characterized by a repetitive and persistent pattern of antisocial, aggressive, of defiant conduct that goes beyond ordinary childish mischief of adolescent rebelliousness. Oppositional defiant disorder (ODD) shares some negative attributes but in a more limited fashion.

ICD-11 terms the disorder as ‘Conduct-dissocial disorder’, while DSM-5 recognizes three separate conditions related to emotional/behavioral problems seen in younger people: conduct disorder, oppositional defiant disorder, and intermittent explosive disorder. Conduct disorder is about poorly controlled behavior, intermittent explosive disorder is about poorly controlled emotions, and ODD is in between. Conduct disorders are further divided into childhood onset (before 10 years) and adolescent onset (10 years of older).

The behavior pattern of conduct disorders must be persistent and recurrent, including multiple incidents of aggression towards people of animals, destruction of property, deceitfulness of theft, and serious violations of rules. The pattern of behavior must result in significant impairment in personal, family, social, educational, occupational, of other important areas of functioning.

Oppositional defiant disorder represents a less severe form of conduct disorder, where there is an absence of more severe dissocial of aggressive acts. The behavior pattern of ODD includes persistent difficulty getting along with others, provocative, spiteful, of vindictive behavior, and extreme irritability of anger.

The prevalence of conduct disorders increases throughout childhood and is more common in boys than girls. The most frequent comorbid problem seen with conduct disorder is hyperactivity. The conversion rate from childhood conduct disorder to adult antisocial personality disorder varies from 40 to 70% depending on the study.

NICE recommends group parent-based training programs of parent and child training programs for children with complex needs for ages 3-11, child-focused programs for ages 9-14, and multimodal interventions with a family focus for ages 11-17. Medication is not recommended in routine practice, but risperidone can be used where other approaches fail and they are seriously aggressive.

Pregnant women often exhibit a type of pica known as amylophagia.

Pica: Eating Non-Nutritive Substances

Pica is a condition where a person persistently eats non-nutritive substances for at least a month. The name pica comes from the Latin word for magpie, a bird known for its large and random appetite. To be diagnosed with pica, the behavior must be developmentally inappropriate, not culturally sanctioned, and severe enough to require clinical attention. It is more common in young people than adults and is often associated with mental retardation.

There are various causes of pica, including mental disorders such as autism and schizophrenia, iron and zinc deficiency (although this is rare and not clear if it is a cause of effect), and pregnancy. The DSM-5 requires a minimum age of 2 before a diagnosis can be made. Pregnant women have been reported to experience certain forms of pica, such as geophagia (clay eating) and amylophagia (starch eating).

Pica affects both sexes equally and is estimated to occur in up to 15% of those with severe intellectual disability. However, aside from cases of autistic spectrum disorder of intellectual disability, pica usually remits by adolescence.

Ritalin is a preparation of methylphenidate.

ADHD (Diagnosis and Management in Children)

ADHD is a behavioural syndrome characterised by symptoms of inattention, hyperactivity, and impulsivity. The DSM-5 and ICD-11 provide diagnostic criteria for the condition, with both recognising three subtypes: predominantly inattentive, predominantly hyperactive-impulsive, and combined.

Treatment for children under 5 involves offering an ADHD-focused group parent-training programme as a first-line option. Medication should only be considered after obtaining advice from a specialist ADHD service. For children and young people aged 5-18, advice and support should be given, along with an ADHD-focused group parent-training programme. Medication should only be offered if ADHD symptoms persist after environmental modifications have been implemented and reviewed. Cognitive behavioural therapy may also be considered for those who have benefited from medication but still experience significant impairment.

NICE advises against elimination diets, dietary fatty acid supplementation, and the use of the ‘few foods diet’. Methylphenidate of lisdexamfetamine is the first-line medication option, with dexamphetamine considered for those who respond to lisdexamfetamine but cannot tolerate the longer effect profile. Atomoxetine of guanfacine may be offered for those who cannot tolerate methylphenidate of lisdexamfetamine. Clonidine and atypical antipsychotics should only be used with advice from a tertiary ADHD service.

Drug holidays may be considered for children and young people who have not met the expected height for their age due to medication. However, NICE advises that withdrawal from treatment is associated with a risk of symptom exacerbation.

Autism Spectrum Disorder (ASD) is a lifelong disorder characterized by deficits in communication and social understanding, as well as restrictive and repetitive behaviors. The distinction between autism and Asperger’s has been abandoned, and they are now grouped together under the ASD category. Intellectual ability is difficult to assess in people with ASD, with an estimated 33% having an intellectual disability. ASD was first described in Europe and the United States using different terms, with Leo Kanner and Hans Asperger being the pioneers. Diagnosis is based on persistent deficits in social communication and social interaction, as well as restricted, repetitive patterns of behavior. The worldwide population prevalence is about 1%, with comorbidity being common. Heritability is estimated at around 90%, and both genetic and environmental factors seem to cause ASD. Currently, there are no validated pharmacological treatments that alleviate core ASD symptoms, but second-generation antipsychotics are the first-line pharmacological treatment for children and adolescents with ASD and associated irritability.

The use of SSRIs and tricyclics is not recommended for individuals under the age of 18 who engage in deliberate self-harm. Instead, family therapy and counseling are preferred options. The Committee on Safety of Medicines has advised against the use of citalopram, escitalopram, paroxetine, and sertraline due to an unfavorable balance of risks and benefits for treating depressive illness in this age group. While fluoxetine has shown some benefit, there are concerns about an increased risk of self-harm and suicidal thoughts.

Conduct disorder is prevalent among children aged 5-15, while emotional problems are the primary concern for secondary school-aged children. Conversely, primary-aged children are more likely to exhibit behavioural problems.

Epidemiology of Mental Health Disorders in Children and Adolescents

The Department of Health (DoH) survey titled The Mental Health of Children and Young People in England is the primary source of epidemiological data on children and adolescents aged 2-19. The latest survey was conducted in 2017 and involved over 9000 participants. The data was collected through interviews with the child, their parent, and their teacher (if school-aged).

The survey found that 1 in 8 children aged 5-19 had a mental disorder, with emotional disorders being the most common, followed by behavioural, hyperactivity, and other disorders such as ASD, eating disorders, and tic disorders. The prevalence of mental disorders has slightly increased over recent decades, with a rise in emotional problems since 2004.

Rates of mental disorders tend to be higher in older age groups, but there is some inconsistency with behavioural and hyperactivity types. For preschool children, 1 in 18 had at least one mental disorder, while for primary school children, 1 in 10 had at least one mental disorder, with behavioural and emotional disorders being the most common. Rates of emotional disorders were similar in boys and girls, while other types of disorders were more common in boys.

For secondary school children, 1 in 7 had at least one mental disorder, with emotional disorders being the most common. Among those aged 17-19, 1 in 6 had at least one mental disorder, with emotional disorders being the most common, mainly anxiety. Girls aged 17-19 had the highest likelihood of having a mental disorder, with nearly one in four having a mental disorder and 22.4% having an emotional disorder.

In summary, the epidemiology of mental health disorders in children and adolescents in England highlights the need for early intervention and support for emotional and behavioural problems, particularly in older age groups and among girls.

Munchausen’s syndrome by proxy, also known as fabricated or induced illness, is a rare form of child abuse where a caregiver, usually the mother, falsifies illness in a child by fabricating of producing symptoms and presenting the child for medical care while denying knowledge of the cause. It is most commonly seen in children under the age of 4, with symptoms including apnoea, anorexia, feeding problems, and seizures. The disorder is now recognized as ‘Factitious Disorder Imposed on Another’ in the DSM-5, with criteria including falsification of physical of psychological signs of symptoms, presentation of the victim as ill, and evident deceptive behavior. The perpetrator, not the victim, receives this diagnosis. Presenting signs of symptoms can take the form of covert injury, fabrication of symptoms, of exaggeration of existing symptoms. Symptoms are often subjective and easy to fake.