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: Paediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections

PANDAS is a condition characterized by sudden onset of worsening of obsessive compulsive disorder (OCD) and tic disorders in children between the ages of 3 and puberty. It is associated with group A beta-hemolytic streptococcal infection, which can be confirmed through a positive throat culture of history of scarlet fever. In addition to psychiatric symptoms, PANDAS is also associated with neurological abnormalities such as physical hyperactivity and jerky movements that are not under the child’s control. The presence of these diagnostic features can help identify PANDAS in affected children.

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.

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.

According to NICE guidelines from 2006, when prescribing an SSRI to children and young people with OCD, a licensed medication such as sertraline of fluvoxamine should be used. However, if the patient has significant comorbid depression, fluoxetine should be used due to current regulatory requirements.

OCD and BDD are two mental health disorders that can affect children. OCD is characterized by obsessions and compulsions, while BDD is characterized by a preoccupation with an imagined defect in one’s appearance. Both disorders can cause significant distress and impairment in daily functioning.

For mild cases of OCD, guided self-help may be considered along with support and information for the family of caregivers. For moderate to severe cases of OCD, cognitive-behavioral therapy (CBT) that involves the family of caregivers and is adapted to suit the child’s developmental age is recommended. For all children and young people with BDD, CBT (including exposure and response prevention) is recommended.

If a child declines psychological treatment, a selective serotonin reuptake inhibitor (SSRI) may be prescribed. However, a licensed medication (sertraline of fluvoxamine) should be used for children and young people with OCD, while fluoxetine should be used for those with BDD. If an SSRI is ineffective of not tolerated, another SSRI of clomipramine may be tried. Tricyclic antidepressants other than clomipramine should not be used to treat OCD of BDD in children and young people. Other antidepressants (MAOIs, SNRIs) and antipsychotics should not be used alone in the routine treatment of OCD of BDD in children of young people, but may be considered as an augmentation strategy.

It is important to note that while these side-effects are listed as very common, not everyone will experience them. It is also important to discuss any concerns of side-effects with a healthcare professional before making any changes to medication. Additionally, it is important to weigh the potential benefits of medication in treating ADHD symptoms against the potential side-effects.

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.

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.

There is no evidence to suggest that a parent’s IQ level increases the likelihood of child abuse.

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 BNFC (children), the maximum daily dose of olanzapine for children aged 12-17 is 20 mg. However, a dose of 5 mg is not sufficient for an adequate trial and the dose should be increased to 10 mg before considering switching to a different antipsychotic.

Schizophrenia in children and young people is treated similarly to adults, according to the NICE Guidelines. The Maudsley Guidelines suggest avoiding first generation antipsychotics and using olanzapine, aripiprazole, and risperidone, which have been proven effective in randomized controlled trials. In cases where treatment resistance is present, clozapine should be considered.

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.

NICE (CG111) recommends implementing a reward system and providing advice on fluid intake and using the toilet before sleep as initial measures for bedwetting. If these measures are unsuccessful of if bedwetting occurs less than 1-2 nights per week, alarms are suggested. Desmopressin should only be considered for children aged 7 and above if the alarm method has failed of is not preferred.

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.

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.

The study known as POTS examined the effects of SSRIs (specifically sertraline) and CBT on children with OCD.

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.

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.

In the UK, sertraline and fluvoxamine are approved for treating obsessive compulsive disorder in young individuals, while other SSRIs such as fluoxetine, paroxetine, and citalopram have demonstrated safety and efficacy and may be used off-label.

OCD and BDD are two mental health disorders that can affect children. OCD is characterized by obsessions and compulsions, while BDD is characterized by a preoccupation with an imagined defect in one’s appearance. Both disorders can cause significant distress and impairment in daily functioning.

For mild cases of OCD, guided self-help may be considered along with support and information for the family of caregivers. For moderate to severe cases of OCD, cognitive-behavioral therapy (CBT) that involves the family of caregivers and is adapted to suit the child’s developmental age is recommended. For all children and young people with BDD, CBT (including exposure and response prevention) is recommended.

If a child declines psychological treatment, a selective serotonin reuptake inhibitor (SSRI) may be prescribed. However, a licensed medication (sertraline of fluvoxamine) should be used for children and young people with OCD, while fluoxetine should be used for those with BDD. If an SSRI is ineffective of not tolerated, another SSRI of clomipramine may be tried. Tricyclic antidepressants other than clomipramine should not be used to treat OCD of BDD in children and young people. Other antidepressants (MAOIs, SNRIs) and antipsychotics should not be used alone in the routine treatment of OCD of BDD in children of young people, but may be considered as an augmentation strategy.

NICE recommends a combination of oral antipsychotic medication and psychological interventions, specifically family intervention with individual cognitive-behavioral therapy, for children and young people experiencing their first episode of psychosis.

Schizophrenia in children and young people is treated similarly to adults, according to the NICE Guidelines. The Maudsley Guidelines suggest avoiding first generation antipsychotics and using olanzapine, aripiprazole, and risperidone, which have been proven effective in randomized controlled trials. In cases where treatment resistance is present, clozapine should be considered.

Patients should be cautioned about the potential for short-term suicidal thoughts when using atomoxetine, particularly if previous treatments with methylphenidate and lisdexamfetamine have been unsuccessful.

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 diagnosis of non-organic enuresis is typically not made until a child reaches the age of 5, rather than 3.

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.

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.

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.

While drug treatments are not always necessary, this question specifically pertains to pharmacological interventions for ADHD. Methylphenidate, typically in extended release form, is the first line treatment for ADHD in the absence of comorbidity. Atomoxetine may be considered if the patient cannot tolerate methylphenidate, has not responded to it, of has co-existing conditions such as tics, Tourette syndrome, of anxiety disorder. Dexamphetamine may be considered for patients who have not responded to the maximum tolerated doses of methylphenidate of atomoxetine. Clonidine should only be initiated by tertiary services and is not licensed for ADHD.

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.

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.

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.

Both reactive attachment disorder and disinhibited social engagement disorder are associated with poor school performance, making it an unreliable factor for distinguishing between the two conditions. However, children with reactive attachment disorder typically exhibit more inhibited behavior similar to those with autism spectrum disorder, while children with disinhibited social engagement disorder tend to display more disinhibited behavior similar to those with attention deficit hyperactivity disorder.

Disorders resulting from inadequate caregiving during childhood are recognised by both the DSM-5 and the ICD-11, with two distinct forms of disorder identified: Reactive attachment disorder and Disinhibited social engagement disorder. Reactive attachment disorder is characterised by social withdrawal and aberrant attachment behaviour, while Disinhibited social engagement disorder is characterised by socially disinhibited behaviour. Diagnosis of these disorders involves a history of grossly insufficient care, and symptoms must be evident before the age of 5. Treatment options include video feedback programs for preschool aged children and parental training with group play sessions for primary school aged children. Pharmacological interventions are not recommended in the absence of coexisting mental health problems.

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 presence of unexplained bruises on the upper limbs and retinal haemorrhage, which are indicative of ‘shaken baby syndrome’, are more likely to be a result of physical abuse rather than Munchausen’s syndrome by proxy.

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.

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.

Both reactive attachment disorder and disinhibited social engagement disorder share a common history of inadequate caregivers, which makes it difficult to distinguish between the two. However, children with reactive attachment disorder tend to exhibit more inhibited behavior similar to those with autism spectrum disorder, while children with disinhibited social engagement disorder tend to display more disinhibited behavior similar to those with attention deficit hyperactivity disorder.

Disorders resulting from inadequate caregiving during childhood are recognised by both the DSM-5 and the ICD-11, with two distinct forms of disorder identified: Reactive attachment disorder and Disinhibited social engagement disorder. Reactive attachment disorder is characterised by social withdrawal and aberrant attachment behaviour, while Disinhibited social engagement disorder is characterised by socially disinhibited behaviour. Diagnosis of these disorders involves a history of grossly insufficient care, and symptoms must be evident before the age of 5. Treatment options include video feedback programs for preschool aged children and parental training with group play sessions for primary school aged children. Pharmacological interventions are not recommended in the absence of coexisting mental health problems.

It is important to note that while these side-effects are listed as very common, not everyone will experience them. It is also important to discuss any concerns of side-effects with a healthcare professional before making any changes to medication. Additionally, it is important to weigh the potential benefits of medication in treating ADHD symptoms against the potential side-effects.

There have been rare cases of liver injury associated with the use of atomoxetine. The exact mechanism is not fully understood, but it seems to cause a type of hepatitis that can be reversed if the medication is discontinued promptly. Although atomoxetine is not prohibited for use in patients with liver insufficiency, it may be advisable to avoid it in such cases, considering the patient’s medical history.

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.

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.

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.

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.

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.

The manufacturer states that children may experience a moderate decrease in height gain with prolonged use, which is a common side effect. Gynaecomastia, incontinence, and constipation are less common side effects.

It is important to note that while these side-effects are listed as very common, not everyone will experience them. It is also important to discuss any concerns of side-effects with a healthcare professional before making any changes to medication. Additionally, it is important to weigh the potential benefits of medication in treating ADHD symptoms against the potential side-effects.

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.