Linguistic Development and Risk Factors for Delayed Speech and Language

The development of language skills is an important aspect of a child’s growth. The prelinguistic period, from birth to 12 months, is marked by crying, babbling, and echolalia. From 6 to 12 months, a child responds to their name and can differentiate between angry and friendly tones. By 18 to 24 months, a child can use up to 40-50 words, mainly nouns, and starts to combine words in short phrases. By 36 to 48 months, a child has a vocabulary of 900-1000 words, can use plurals and past tense, and can handle three-word sentences easily.

However, there are risk factors associated with delayed speech and language development. These include a positive family history, male gender, twins, lower maternal education, childhood illness, being born late in the family order, young mother at birth, and low socioeconomic status. of these, a positive family history is considered the most reliable risk factor. It is important to monitor a child’s language development and seek professional help if there are concerns about delayed speech and language.

According to the Maudsley Guidelines 14th Edition, there is no proof that second generation antipsychotics are effective in treating ADHD symptoms. However, there is some evidence to support the use of all other listed options. Bupropion has shown to be effective and well-tolerated, but there is a lack of evidence compared to standard treatments.

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.

Childhood disintegrative disorder, also known as Heller’s syndrome, is identified by significant regression in multiple areas of development after at least two years of typical development. While it was previously considered a distinct disorder, it is now classified as a subset of autism in DSM-V. The estimated prevalence of this disorder is 1 in 100,000, with a higher incidence in boys than girls at a ratio of 4-8:1. Typically, symptoms begin to manifest between the ages of 3-4 years.

Rett Syndrome: A Rare Neurodevelopmental Disorder

Rett syndrome is a neurodevelopmental disorder that is rare, affecting approximately 1 in 10,000 female births. Although it mostly affects females, there have been cases of males with the disorder. While the exact cause of the disorder is not known, it is believed to have a genetic basis, with mutations in the MECP2 gene (Xq28) being associated with the disorder. Monozygotic twins have been found to have complete concordance in cases of Rett syndrome.

The disorder has a unique presentation, with affected children experiencing a normal period of development until 6-18 months. After this period, they begin to develop problems with language, losing previously acquired speech. Purposeful hand movements are replaced with stereotypic movements, such as hand wringing, and ataxia and psychomotor retardation may occur. Other stereotypical movements, such as finger licking of biting and tapping of slapping, may also be seen. Head circumference is normal at birth, but growth begins to decelerate between 6-12 months, resulting in microcephaly. All language skills are lost, both receptive and expressive, and social skills plateau at developmental levels between 6-12 months.

Seizures are associated with Rett syndrome in 75% of those affected, and almost all affected children have abnormal EEG findings. Breathing problems, such as hyperventilation, apnea, and breath holding, are also seen. Children with Rett syndrome may live for well over a decade after the onset of the disorder, but after 10 years, many patients are wheelchair-bound with virtually no language ability. Additional features of the disorder include seizures, breath holding and hyperventilation, sleep difficulties, and issues with locomotion.

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.

According to NICE, when a patient has both depression and OCD, the preferred treatment is fluoxetine.

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.

Atomoxetine is a suitable treatment option for individuals with Tourette’s and hyperkinetic disorder (ADHD) as it does not exacerbate tics, which is a common concern with other medications that affect the dopaminergic system. This is because atomoxetine is a highly selective noradrenaline reuptake inhibitor (NARI).

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.

The most prevalent type of tic disorder is transient tic disorder, which requires the patient to meet the overall criteria for a tic disorder, but with tics lasting no longer than 12 months. Tics may occur as a single episode of have periods of remission and relapse over several months.

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.

Boys typically begin puberty around the age of 12, while girls typically begin around the age of 11.

Puberty

Puberty is a natural process that occurs in both boys and girls. The age range for the onset of puberty is between 8-14 years for females and 9-14 years for males, with the mean age of onset being 11 years for girls and 12 years for boys. The duration of puberty is typically 3-4 years. The onset of puberty is marked by the appearance of secondary sex characteristics, such as breast development in females and testicular enlargement in males. These characteristics evolve over time and are rated into 5 stages according to Tanner’s criteria. The sequence of events differs between boys and girls, with the onset of breast development (thelarche) generally preceding the onset of the first period (menarche) by around 2 years in girls. The pubertal growth spurt occurs during stages 3 to 4 in most boys and during stages 2 and 3 in girls. Precocious puberty, which occurs earlier than usual, is more common in girls than in boys. The age of onset of puberty in girls has been decreasing over time, with environmental factors such as nutrition potentially playing a role in this trend.

Childhood Fear: Normal Development

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

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

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

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.

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.

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.

According to Maudsley (2012), melatonin is the preferred medication for childhood insomnia. Administering melatonin approximately 30 minutes before bedtime can be helpful in inducing sleep. However, it may not be as effective for early waking issues (Allington-Smith, 2006), although a gradual-release form of melatonin may work for certain cases.

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.

Obsessive compulsive disorder is no longer believed to be caused by strict parenting. The primary treatment is cognitive behavioural therapy, but selective serotonin reuptake inhibitors (SSRIs) may also be used, particularly for children over the age of 12. Boys typically experience onset of symptoms up to two years earlier than girls.

Linguistic Development and Risk Factors for Delayed Speech and Language

The development of language skills is an important aspect of a child’s growth. The prelinguistic period, from birth to 12 months, is marked by crying, babbling, and echolalia. From 6 to 12 months, a child responds to their name and can differentiate between angry and friendly tones. By 18 to 24 months, a child can use up to 40-50 words, mainly nouns, and starts to combine words in short phrases. By 36 to 48 months, a child has a vocabulary of 900-1000 words, can use plurals and past tense, and can handle three-word sentences easily.

However, there are risk factors associated with delayed speech and language development. These include a positive family history, male gender, twins, lower maternal education, childhood illness, being born late in the family order, young mother at birth, and low socioeconomic status. of these, a positive family history is considered the most reliable risk factor. It is important to monitor a child’s language development and seek professional help if there are concerns about delayed speech and language.

ADHD is a prevalent disorder worldwide, with a prevalence of 7% in those under 18 and 3.5% in those over 18. It is more common in males, with a male to female ratio of 2:1 in children and 1.6:1 in adults. While some improvement in symptoms is seen over time, the majority of those diagnosed in childhood continue to struggle with residual symptoms and impairments through at least young adulthood, with an estimated persistence rate of 50%.

Klinefelter syndrome is not inherited in a predictable manner as it occurs randomly. Additionally, due to the infertility of almost all affected males, it is unlikely to observe any other type of inheritance pattern.

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.

The NICE guidelines require that before attempting clozapine, at least one second-generation (atypical) antipsychotic should have been tested. There is no mandate for a trial of a typical antipsychotic.

Antipsychotics in Young People

Antipsychotics are just as effective in children and adolescents as they are in adults. However, the rate of side effects in young people is higher than in adults. Clozapine is a beneficial second-line agent for treating children with refractory schizophrenia and some argue for its early use in first-episode psychosis. Before starting clozapine, a patient should have tried at least two different antipsychotics, with at least one being a second-generation (atypical) antipsychotic, according to NICE guidelines.