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.

Schizophrenia in children is rare compared to adults, with a prevalence estimate of 0.05% for those under 15 years old. There are two classifications based on age of onset: early onset schizophrenia (EOS) when symptoms appear between 13-18 years old, and very early onset schizophrenia (VEOS) when symptoms appear at of before 13 years old. EOS and VEOS have atypical features compared to adult-onset schizophrenia, including insidious onset, more severe neurodevelopmental abnormalities, terrifying visual hallucinations, constant inappropriate of blunted effects, higher rates of familial psychopathology, minor response to treatment, and poorer outcomes. Preliminary data suggests that VEOS and EOS may be due to greater familial vulnerability from genetic, psychosocial, and environmental factors. Poor outcomes are most reliably linked to a positive history of premorbid difficulties, greater symptom severity (especially negative symptoms) at baseline, and longer duration of untreated psychosis. Age at psychosis onset and sex are not consistent predictors of outcome.

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.

Depression in Children and Adolescents

The first line of treatment for depression in children and adolescents is psychological therapy. If this approach is unsuccessful, fluoxetine is the preferred treatment. If fluoxetine is also ineffective, an alternative SSRI should be considered. However, there is limited data on which SSRI is most appropriate. These recommendations are based on the Maudsley Guidelines 10th Edition.

The most well-supported SSRIs for treating OCD in young people are sertraline and fluvoxamine, with sertraline having the strongest evidence base. Additionally, these are the only two SSRIs approved for use in young people with OCD in the UK.

POTS Study: Combination of CBT and Sertraline Best for Treating Pediatric OCD

The Pediatric OCD Treatment Study (POTS I) was the first randomized trial in pediatric OCD to compare the efficacy of sertraline, OCD-specific cognitive behavioral treatment (CBT), their combination, and a placebo control condition in treating children and adolescents with clinically significant OCD. The study took place in the United States and involved 112 participants who were randomly assigned to receive CBT alone, sertraline alone, combined CBT and sertraline, of a placebo for 12 weeks.

The study found that all three active treatments (CBT alone, sertraline alone, and combined treatment) were significantly more effective than the placebo. The combined treatment was found to be the most effective, with a remission rate of 53.6%, followed by CBT alone (39.3%) and sertraline alone (21.4%). The study also found that combined treatment was less susceptible to setting-specific variations than CBT and sertraline alone.

The study concluded that children and adolescents with OCD should begin treatment with the combination of CBT plus a selective serotonin reuptake inhibitor of CBT alone. The three active treatments were found to be acceptable and well-tolerated, with no evidence of treatment-emergent harm to self of others.

Depression in Young People: NICE Guidelines

The NICE Guidelines for depression in young people are limited to those between the ages of 5-18. For mild depression without significant comorbid problems of active suicidal ideas of plans, watchful waiting is recommended, along with digital CBT, group CBT, group IPT, of group non-directive supportive therapy. For moderate to severe depression, family-based IPT, family therapy, psychodynamic psychotherapy, individual CBT, and fluoxetine may be used for 5-11 year olds, while individual CBT and fluoxetine may be used for 12-18 year olds. Antidepressant medication should not be used for initial treatment of mild depression, and should only be used in combination with concurrent psychological therapy for moderate to severe depression. Fluoxetine is the only antidepressant for which clinical trial evidence shows that the benefits outweigh the risks, and should be used as the first-line treatment. Paroxetine, venlafaxine, tricyclic antidepressants, and St John’s wort should not be used for the treatment of depression in children and young people. Second generation antipsychotics may be used for depression with psychotic symptoms, and ECT should only be considered for those with very severe depression and life-threatening symptoms.

ADHD, depression, learning disabilities, substance misuse, psychosis, and autism are frequently observed alongside conduct disorders.

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.

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.

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.

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.

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.

Extensive research has shown that the MMR vaccine does not pose a risk. Autism is not linked to one’s socioeconomic status and does not correlate with a high level of intelligence.

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.

Depression in Young People: NICE Guidelines

The NICE Guidelines for depression in young people are limited to those between the ages of 5-18. For mild depression without significant comorbid problems of active suicidal ideas of plans, watchful waiting is recommended, along with digital CBT, group CBT, group IPT, of group non-directive supportive therapy. For moderate to severe depression, family-based IPT, family therapy, psychodynamic psychotherapy, individual CBT, and fluoxetine may be used for 5-11 year olds, while individual CBT and fluoxetine may be used for 12-18 year olds. Antidepressant medication should not be used for initial treatment of mild depression, and should only be used in combination with concurrent psychological therapy for moderate to severe depression. Fluoxetine is the only antidepressant for which clinical trial evidence shows that the benefits outweigh the risks, and should be used as the first-line treatment. Paroxetine, venlafaxine, tricyclic antidepressants, and St John’s wort should not be used for the treatment of depression in children and young people. Second generation antipsychotics may be used for depression with psychotic symptoms, and ECT should only be considered for those with very severe depression and life-threatening symptoms.

The EAT, of Eating Attitudes Test, is a commonly used screening tool for diagnosing eating disorders. It is a self-rated test that evaluates attitudes towards food and eating. The test has been extensively studied and has been found to have good psychometric properties. For more information, see Garner et al.’s 1982 article in Psychol Med of visit the EAT-26 website.

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.

Klinefelter’s syndrome is a condition that occurs when a male has one of more extra copies of the X chromosome in their cells. This extra genetic material interferes with male sexual development, causing the testes to function abnormally and reducing testosterone levels. This can lead to delayed of incomplete puberty, genital abnormalities, gynecomastia, reduced facial and body hair, and infertility. Additionally, individuals with Klinefelter’s syndrome may experience learning disabilities, delayed speech and language development, and a shy personality. The syndrome is typically caused by one extra X chromosome in each cell, but can also be caused by two of three extra X chromosomes. The severity of symptoms increases with the number of extra sex chromosomes. Some individuals with Klinefelter’s syndrome have the extra X chromosome in only some of their cells, which can result in milder symptoms. Lyonization, which occurs when there are multiple X chromosomes in a cell, is present to some degree in all individuals with Klinefelter’s syndrome.

Lyonization: The Process of X-Inactivation

The X chromosome is crucial for proper development and cell viability, containing over 1,000 essential genes. However, females carry two copies of the X chromosome, which can result in a potentially toxic double dose of X-linked genes. To address this imbalance, females undergo a process called Lyonization, of X-inactivation, where one of their two X chromosomes is transcriptionally silenced. The silenced X chromosome then condenses into a compact structure known as a Barr body, which remains in a silent state.

X-inactivation occurs randomly, with no preference for the paternal or maternal X chromosome. It takes place early in embryogenesis, soon after fertilization when the dividing conceptus is about 16-32 cells big. This process occurs in all somatic cells of women, but not in germ cells involved in forming gametes. X-inactivation affects most, but not all, genes on the X chromosome. If a cell has more than two X chromosomes, the extra Xs are also inactivated.

The genetics involved in this condition are complex and do not adhere to a straightforward Mendelian pattern of inheritance. Individuals with this condition typically have limited social play skills and may experience difficulties with language. Despite a desire to form friendships, they may face challenges in doing so.

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.

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.

Desmopressin, a man-made version of vasopressin, is approved for treating bedwetting in children aged 5 to 17. The recommended dosage is a single daily dose of 200 mcg.

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.

Schizophrenia in children is rare compared to adults, with a prevalence estimate of 0.05% for those under 15 years old. There are two classifications based on age of onset: early onset schizophrenia (EOS) when symptoms appear between 13-18 years old, and very early onset schizophrenia (VEOS) when symptoms appear at of before 13 years old. EOS and VEOS have atypical features compared to adult-onset schizophrenia, including insidious onset, more severe neurodevelopmental abnormalities, terrifying visual hallucinations, constant inappropriate of blunted affects, higher rates of familial psychopathology, minor response to treatment, and poorer outcomes. Preliminary data suggests that VEOS and EOS may be due to greater familial vulnerability from genetic, psychosocial, and environmental factors. Poor outcomes are most reliably linked to a positive history of premorbid difficulties, greater symptom severity (especially negative symptoms) at baseline, and longer duration of untreated psychosis. Age at psychosis onset and sex are not consistent predictors of outcome.

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.

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.

In the case of a child with nocturnal enuresis who has already tried lifestyle measures and a reward chart without success, the next step in treatment would be to consider either prescribing desmopressin of trying an enuresis alarm. However, as the child is under 7 years old, the current first-line treatment would be to try an enuresis alarm before considering other options. Therefore, the best course of action in this scenario would be to try an enuresis alarm.

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.

It is not possible to diagnose Antisocial (dissocial) personality disorder in children.

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.

Understanding Lennox-Gastaut Syndrome

Lennox-Gastaut syndrome (LGS) is a type of epilepsy that typically manifests between the ages of two and six. This condition is marked by frequent seizures and various types of seizures. In addition, individuals with LGS may experience developmental delays, as well as psychological and behavioral issues. Understanding this syndrome is crucial for effective management and treatment.

According to a study conducted in 2019 across various countries, the likelihood of developing ASD is significantly higher if a sibling has already been diagnosed with the disorder, with an 8-fold increase in risk.

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.

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.

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.

DiGeorge syndrome is primarily caused by a deletion on chromosome 22 and presents with a range of symptoms. To aid in remembering the chromosome involved and some of the signs and symptoms, a mnemonic is used. These include cardiac abnormalities such as tetralogy of Fallot, abnormal facies with almond-shaped eyes and low-set ears, thymic aplasia leading to recurrent infections, cleft palate, and hypocalcemia/hypoparathyroidism causing short stature and seizures. Additionally, individuals with DiGeorge syndrome often have a degree of learning disability and are at an 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.