Valerie A. Harpin Susan M. Gentle             CHAPTER                             Neurodevelopmental                      ...
related. Thomas was born at term weighing                       BOX 29.1 Definitions in learning disability                ...
All children with significant learning difficulties          mon or easily recognized syndromes, such as Down’s,           s...
BOX 29.3 Pitfalls in screening for metabolic                 Down’s syndrome (Tables 29.2 and 29.3)                       ...
Table 29.2 Down’s syndrome            Feature                                       Comments            Facial features   ...
insidious rather than acute. It is important not to       Features are very variable and some are only evident            ...
• It is seen more in fragile X carriers, Turner’s             Secondary problems include:             syndrome, phenylketo...
children. Frederick Still described children in 1902       be over-estimated because boys show more obvious               ...
Q2. How would you assess Connor for this                   • Unrealistic expectations on the part of parents or           ...
Support groups                                               • Rebound behaviour difficulties                              ...
BOX 29.4 Exercise: terminology in cerebral palsy            BOX 29.5 Feedback on terminology             Have a go at defin...
remains problematic and, in more severe cases,                                     learning difficulties and seizures may c...
Key professionals                                           reducing contractures. The duration of effect is           • T...
Associated problems                                           Other associated problems include:                          ...
MRCPCH MasterCourse | ElsevierAsia
MRCPCH MasterCourse | ElsevierAsia
MRCPCH MasterCourse | ElsevierAsia
MRCPCH MasterCourse | ElsevierAsia
MRCPCH MasterCourse | ElsevierAsia
MRCPCH MasterCourse | ElsevierAsia
MRCPCH MasterCourse | ElsevierAsia
MRCPCH MasterCourse | ElsevierAsia
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MRCPCH MasterCourse | ElsevierAsia


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MRCPCH MasterCourse | ElsevierAsia

  1. 1. Valerie A. Harpin Susan M. Gentle CHAPTER Neurodevelopmental 29 disability Learning outcomes 27 Introduction 27 Learning disability 27 Developmental coordination disorder 33 The cerebral palsies 36 Communication and its disorders 40 Autistic spectrum disorders 44 LEARNING OUTCOMES By the end of this chapter you should: ● Understand the causes of learning disability, attention deficit/hyperactivity disorder (ADHD), cerebral palsy and communication disorders ● Understand the principles of management of learning disability, ADHD, cerebral palsy and the different types of language impairment and communication disorder ● Understand the concept of the autistic spectrum and what it includes. MODULE S IX You should also take the opportunity to ensure that: ● You can make an initial assessment of a child with learning difficulties, ADHD, delayed walking and cerebral palsy, and delayed language development ● You are aware of the different ways of assessing of language impairment and communication disorder ● You are aware of appropriate management. Introduction Learning disability The prevalence of physical and multiple disabilities in Problem-orientated topic: children is estimated to be approximately 10–20 per 1000. Chapter 18 describes the concepts and causes of the slow learning child ●●●●● disability, and emphasizes that its management requires a multidisciplinary approach, often focused on a Child Thomas is a 3-year-old boy who is referred Development Centre. This chapter concentrates on the because of suspected developmental delay. causes, investigation and management of common His vision and hearing are normal. There specific neurodisabilities of childhood. Although each is no family history of learning disability, disability is considered separately, multiple disabilities fits or serious illness. His parents are not in the same child are common. Continued overleaf 27V0229-F01906.indd 27 2/13/07 5:38:36 PM
  2. 2. related. Thomas was born at term weighing BOX 29.1 Definitions in learning disability 3.5 kg, following a normal pregnancy. He had In the UK, the term ‘learning disability’ is currently no neonatal problems. There is no relevant used in preference to ‘mental subnormality’ or29 past medical history and no evidence of fits. ‘mental retardation’, whereas in the USA the He smiled at 8 weeks, sat by 8 months and term ‘learning disability’ means ‘specific learning walked at 15 months. He has had no feeding disability’ and ‘mental retardation’ is still the term Neurodevelopmental disability difficulties. His early social interaction was used to denote ‘general learning difficulties’. normal. On examination he is not dysmorphic. His head circumference is on the 70% centile. Table 29.1 UK definitions and incidence He has no neurocutaneous lesions; his gait, Definition IQ Incidence Cause (per 1000) identified* fundi and deep-tendon reflexes are normal, Mild/moderate 50–70 5 68% and his plantar reflexes are down-going. Arm Severe < 50 3.8 96% and leg tone is normal and symmetrical. He shows good eye contact, early turn-taking Severe 9.3 (developing and uses his index finger to point for a drink countries) or food. The only word he uses is ‘Mum’, with * This is higher, however, than in routine clinical practice (Whiting K some other early babble. 2001 Investigating the child with learning difficulty. Current Paediatrics 11:240–247). Q1. What is the definition of learning disability? Q2. How do you make the diagnosis of learning We will use the abbreviations ‘SLD’ for severe learning disability? disability and ‘MLD’ for mild/moderate learning disability. Q3. What are the pros and cons of investigating a child with a learning disability? Some psychometric tests Q4. What investigations would you perform, if any? The following two tests are commonly used by paedia- Q5. How would you manage this child and family? tricians. Both require training and special equipment: • Griffiths. This has been standardized on 0–8-year-old British children but relies on parental reporting; many items are timed. It has recently been updated. Q1. What is the definition of learning • Bayley II. This scale (age range 0–42 months) is used to assess developmental age and has been disability? standardized on American children. A child or young person has a learning disability if he or she has ‘a greater difficulty in learning than the majority of children of the same age’ (Box 29.1). Q2. How do you make the diagnosis of The International Statistical Classification of Diseases– learning disability? (Box 29.2) 10th revision (ICD-10) defines it as ‘a condition of arrested Mild/moderate learning disability or incomplete development of the mind which is especially While children with SLD often have associated problems characterized by impairment of skills manifested during such as cerebral palsy, those with MLD often have no the developmental period contributing to the overall other problems. Many will be the tail-end of the normal level of intelligence, i.e. cognitive, motor and social distribution; others will have learning difficulties as abilities’. This is not a helpful definition for parents. a result of environmental factors (lack of early oppor- For research and study it is sometimes necessary to have tunities or iron deficiency) and be functioning below a definition that can be measured. Average intelligence their genetic potential; some will have an identifiable quotient (IQ) is 100, with a standard deviation (SD) of remediable cause such as vision or hearing problems; 15. Learning disability may then be defined as > 2 SD some will have an intrinsic problem such as neuro- below the mean or the ICD-10 definitions: fibromatosis or a chromosome abnormality. • Mild IQ 50–69 • Moderate IQ 35–49 BOX 29.2 A point to remember • Severe IQ 20–34 • Profound IQ < 20. History and examination are the main ways in which a diagnosis is made. Investigations are most useful In practice, people in the UK often use the defini- in confirming or clarifying a diagnosis. 28 tions shown in Table 29.1.V0229-F01906.indd 28 2/13/07 5:38:36 PM
  3. 3. All children with significant learning difficulties mon or easily recognized syndromes, such as Down’s, should have at least some paediatric assessment to Edwards’ and Sturge–Weber; and others with a number contribute to identification of special educational of abnormal features not immediately recognizable needs. as a syndrome but in whom it is possible to make a When seeing a child referred from school with MLD diagnosis. enquire about: • History • Birth • Progress from birth OMIM (Online Mendelian Inheritance in Man) • Family dysmorphology database • Other concerns • Hearing and vision Developmental regression • Behaviour If there is progressive loss of skills (Ch. 28) it is • Poor general health important to consider: • Time off school, leading to under-achievement • Hydrocephalus • Whether children are working at their best in • Poorly controlled epilepsy school • Metabolic disorder/neurodegenerative disorder • Epilepsy (absences, minor status). • Rett’s disease Look for dysmorphism or other clues to aetiology. • Infection, particularly in an immunocompromised host (e.g. AIDS) • Vascular problem, e.g. repeated minor strokes from Severe learning disability moyamoya or sickle cell disease; malformations It is important to ask or examine for: causing vascular ‘steal’. • Genetic abnormalities: – Dysmorphism True regression can be hard to ascertain because – Malformations development is taking place at the same time. All child- • Metabolic defects: ren, and particularly those with a learning disability, will – Failure to thrive sometimes learn something new and then appear to – Hypotonia forget it for a while. – Consanguinity – Recurrent unexplained illness (especially MODULE S IX Reasons to ask for further assessment anorexia and vomiting) • To obtain an objective assessment of abilities – Loss of skills • To identify strengths and weaknesses that may help – Coarse facies with management – Ocular abnormalities • To assess progress – Macro- or microcephaly • For the court, such as in cases of neglect – Family history of unexplained illness or death • For research. • Brain malformation: – Abnormal skull – Focal deficit Q3. What are the pros and cons of – Loss of skills investigating a child with a learning – Micro- or macrocephaly disability? – Seizures – Visual abnormality. Pros • Treatable cause, e.g. hypothyroidism Syndromes • Genetic counselling may be useful These are more likely in children with SLD but should • For prognosis be considered in all children with learning difficulties. • The parents may be helped by knowing the In children with SLD, about one-quarter have a chromo- cause. somal disorder; 80–90% of these have Down’s syndrome. The next most common disorder is fragile X syndrome Cons (p. 32). • False positives and false negatives There are now over 2000 syndromes and the number • Pain and complications of investigations continues to increase. From a practical day-to-day (especially anaesthesia) perspective they fall into two broad groups: the more com- • Financial cost. 29V0229-F01906.indd 29 2/13/07 5:38:36 PM
  4. 4. BOX 29.3 Pitfalls in screening for metabolic Down’s syndrome (Tables 29.2 and 29.3) disorders Incidence is approximately 1 in 1000 live births. The Beware of thinking you can ‘screen for metabolic risk of having a child with Down’s syndrome increases29 disorders’ and exclude them. ‘Screens’ look for only with maternal age, so that for a mother in her twenties a small number of things. Be prepared to investigate the risk is less than 1 in 1000, but greater than 1 in 100 again if things change. See also Chapter 15. Neurodevelopmental disability in mothers over 40. However, most babies are born to mothers in their twenties and thirties. Almost everyone can recognize a child or adult Q4. What investigations would you with Down’s syndrome. One of the problems with a perform, if any? (Box 29.3) well-recognized syndrome is that people can have preconceived ideas about what a child with Down’s Investigations should be performed on the basis of syndrome is like. Children with Down’s syndrome can clues from the history and examination. The following be as different from each other as any other group of investigations may be indicated, particularly in children children in the population. Some children are able to with SLD: follow a mainstream curriculum and achieve GCSE • Chromosome analysis passes. Others may never develop language. Some have • Brain imaging very limited exercise tolerance, while others achieve • Metabolic investigations. sporting excellence. Q5. How would you manage this child and Genetic types (see also Ch. 9) family? Most are caused by non-disjunction in meiosis, resulting in an additional chromosome 21 (47 XY with additional The neurodevelopmental paediatrician’s role is: chromosome 21). In 20–25% the extra chromosome is • Establishing whether there is a learning disability paternal. When Down’s syndrome is caused by trisomy (usually done with a multidisciplinary team). In 21, the recurrence risk is about double that of a woman younger children it is the health services that are of the same age without a previous history. primarily involved in this. In older children it is Three to four percent result from translocation of primarily school-based. material from chromosome 21 on to another chromo- • Identifying the cause. This may be from the history some. A parent may often have a balanced translocation and examination or may include investigation. (one of their chromosome 21s is attached to another • Referral to other professionals as appropriate. These chromosome), but this causes no problem because they may include: have a normal total amount of chromosome material. – Speech and language therapy (SLT), However, this tagged-on chromosome may be present occupational therapy (OT), physiotherapy in a gamete in addition to a normal chromosome – Psychology 21, giving rise to extra chromosome material in the – Other medical specialties offspring. There is a greatly increased risk of a couple – Education having a second affected child. – Social services. Mosaicism accounts for 2–6% and such individuals • Looking for and managing associated difficulties. There are usually affected to a lesser degree. may be problems with hearing, vision, motor function, behaviour or epilepsy. Some are specific, Diagnosis e.g. hypothyroidism in Down’s syndrome. If the diagnosis is not made on antenatal screening, • Counselling parents. The neurodevelopmental it is usually made early in the neonatal period by paediatrician may be the initial person to do this, recognition of the typical features of Down’s syndrome. although others may take up the role later. It may be a midwife, a paediatrician or the parents who • Liaison with education. first recognize that there is a problem with the baby. • Explanation to child and parents of the likely effects of There is strong evidence from parents to suggest that the disabilities. disclosure should be made as soon as the diagnosis is • Responding to concerns. suspected, preferably with both parents present. The In metabolic disorders some pharmacological treat- diagnosis is confirmed by chromosome analysis. ments may have an effect on progress. This is a very specialized area and one that is constantly changing, Management but it is a good reason for trying to make a specific Down’s syndrome has possible effects on all body 30 diagnosis. systems. Management of children therefore needsV0229-F01906.indd 30 2/13/07 5:38:37 PM
  5. 5. Table 29.2 Down’s syndrome Feature Comments Facial features Prominent epicanthic folds Flat nasal bridge Small nose Protrusion of tongue This is not a large tongue but poor tone Brachycephaly Wide hands, short fingers Distal tri-radius, clinodactyly Single palmar crease Simian crease may be present in normal individuals Wide gap between first and second toes Brushfield spots Spots on iris Fine soft hair Can have alopecia Dry, hyperkeratotic skin Helped by simple emulsifying cream and appropriate bath oil Other skin problems Such as vitiligo, papular erythema, mottled skin (cutis marmorata) Hypotonia Prominent in the neonatal period. Influences motor development. May result in joint dislocation Orthopaedic problems Atlanto-axial instability (see below) Hip dysplasia/dislocation Dislocation/displacement of other joints Cardiac problems See below Bowel problems Duodenal atresia presents neonatally Also look out for constipation (Hirschsprung’s disease, hypothyroidism) and malabsorption Infections More prone to infections, e.g. bacterial pneumonia, otitis media Hypothyroidism Higher incidence of autoimmune hypothyroidism; important to screen for this Leukaemia About a 10–20-fold increase. Children may cope badly with intensive treatment Low fertility Females are fertile Males often have undescended testes and hypogonadism Behaviour difficulties Management should be appropriate to developmental age MODULE S IX Poor growth and weight problems Frequently poor feeders in infancy. Later a tendency to become overweight and attention to diet and activity levels is needed N.B. Use growth charts for children with Down’s syndrome Presenile dementia Important for long-term support, as carers may be elderly with an affected young adult Table 29.3 Average milestones for children with Down’s Atrioventricular (AV) canal defects (endocardial syndrome cushion defects) occur very specifically in children Milestone Mean age Range with Down’s syndrome (p. 215). Any newborn Sitting 13 months 6–30 months found to have an AV canal defect should have Standing 22 months 9–48 months chromosomal analysis. Walking 30 months 12–60 months Patent ductus arteriosus (PDA), ventricular septal defect (VSD) and atrial septal defect (ASD) are also Single words 34 months 12–72 months more common in children with Down’s syndrome. 40% of children with Down’s syndrome are able to learn to read Damage to pulmonary vasculature with irreversible pulmonary hypertension can occur a multidisciplinary approach. Of the many other much earlier in children with Down’s syndrome potential problems in a child with Down’s syndrome, than expected from the size of the shunt alone. there are two that deserve particular mention: PDA, ASD, VSD and AV canal defects should be • Congenital heart disease. This occurs in 40–50% considered for early surgical intervention. of babies with Down’s syndrome. All newborn • Atlanto-axial instability. Routine cervical spine X- babies should be evaluated, with observation ray used to be recommended but review of X-rays (of feeding etc.), physical examination, of the same child taken minutes apart could give electrocardiogram (ECG), chest X-ray (CXR) and rise to completely different advice. Spinal cord echocardiogram. damage in Down’s syndrome is rare and usually 31V0229-F01906.indd 31 2/13/07 5:38:37 PM
  6. 6. insidious rather than acute. It is important not to Features are very variable and some are only evident frighten parents and cause children to be wrapped in adolescent or adult life. Clinical diagnosis in a in cotton wool and prevented from joining in young child is difficult. appropriate activities; however, parents do need Families need careful genetic advice.29 relevant information to enable them to recognize Other sex chromosome abnormalities in which symptoms that should be reported. The three most learning disability may occur are discussed in Neurodevelopmental disability common symptoms are: Chapter 9. – Deterioration/change in gait or manipulation skills – Neck pain/stiffness Neurocutaneous syndromes – Difficulties with sphincter control. These may also cause learning disability (pp. 8–10). Children with any of these should be investigated urgently. Advice should be given to other regular carers Rett’s syndrome of children with Down’s syndrome and included in medical advice for assessment of special This presents as a neurodegenerative disorder but educational needs. is probably a neurodevelopmental disorder. It is sometimes classified with the pervasive development disorders such as autism. Genetic advances in Rett’s Guidelines on surveillance for people with Down’s have been rapid in recent years. Milder cases and cases syndrome in boys are being described. It constitutes about 10% of SLD in girls. Fragile X syndrome This is probably the second most common known Specific learning difficulties syndromic cause of global learning disability (about 1 in 1360 males and 1 in 2000 females; a further 1 in The Education Code of Practice defines children as 1000 females are asymptomatic carriers). The degree having specific learning difficulties when they have varies from mild to severe in boys, and mild to moderate ‘significantly’ more difficulty in a specific area than in girls. The defect in fragile X is now known to be an most children of the same age that is not due to general expansion in a specific DNA triplet repeat (CGG) on learning disabilities. the X chromosome. ICD and DSM (Diagnostic and Statistical Manual of Physical features include: Mental Disorders) definitions depend on the child having • Long face and slightly increased head a normal IQ and no other problems, but there is no circumference reason why a child with generalized learning difficulties • Macrognathia cannot have specific difficulties in one particular area, • Large protuberant ears over and above their general level of difficulty. • Flattened nasal bridge • Abnormal dermatoglyphics Specific reading disorder • Macro-orchidism • Infantile hypotonia The term ‘dyslexia’ is used, but very loosely, for a wide • Connective tissue dysplasia (joint laxity and soft variety of difficulties at school. velvety skin) • Aortic dilatation and mitral valve prolapse • Recurrent otitis media Writing disorder • Failure to thrive in infancy There is a lot of overlap between reading and writing • Tonic–clonic or partial epilepsy, temporal spikes problems (dysgraphia). on electroencephalogram (EEG) • MRI scan abnormalities (especially cerebellum). Mathematics disorder (dyscalculia) Psychological features include: • Variable intellectual impairment Incidence is probably similar to dyslexia and dysgraphia • Language delay but there are interesting differences: • Social impairments, such as those seen in • Dyscalculia is seen equally in boys and girls autism (though recent work suggests that dyslexia may 32 • Attention and concentration difficulties. also be equally represented).V0229-F01906.indd 32 2/13/07 5:38:37 PM
  7. 7. • It is seen more in fragile X carriers, Turner’s Secondary problems include: syndrome, phenylketonuria (PKU) • Behaviour problems and ADHD. • Poor self-esteem • It is the most common learning difficulty in • School failure. epilepsy. When a child first presents at the clinic, a general paediatric and neurological assessment is needed, parti- cularly to exclude other causes. There are no specific signs Developmental coordination on neurological examination. Assessments specifically for disorder (DCD) DCD are best carried out by an occupational therapist, but the paediatrician should perform some initial Currently, this is the term used most commonly for screening. children with motor coordination problems. A number of conditions can present with clumsiness other than DCD Management and these need to be excluded because management is The mainstay of treatment is occupational therapy and different. Evidence of deterioration should be sought physiotherapy. Management can be considered under at presentation and at reviews. the following headings: • Explanation to child, parent and teacher • Specific advice to parents and teachers to help in Differential diagnosis specific areas such as handwriting and dressing • Muscular dystrophies • Improving self-esteem • Cerebral palsies • Specific therapy. • Brain tumours • Brain injury • Hydrocephalus Problem-orientated topic: • Ataxias, such as Friedreich’s ataxia (p. 14) • Metabolic disorders disruptive behaviour (ADHD) ●●●● • Polyneuropathies Connor is 7 years old. His mother, a single • Seizure disorder (p. 5) parent to Connor and his 4-year-old sister, • Vestibular disease has always struggled with his behaviour. • Tremors and other involuntary movements. Now things are going very badly at school. MODULE S IX History, examination and, if appropriate, investigation Connor has barely started to acquire literacy should exclude these diagnoses. skills, although he seems a bright child. His disruptive behaviour in class is now such a Presentation problem that he is frequently sent home. His This is variable and depends on the age of the child, class teacher has advised his mother to seek though most patients do not present until school age. a medical appointment. He was initially slow There is a mixture of gross and fine motor problems. to acquire language but other milestones Gross motor problems include: were normal. Last week he set fire to his • Awkward gait, ungainly running bedroom carpet. • Falling a lot • Bumping into things • Poor balance Q1. What is attention deficit/hyperactivity disorder? • Poor balancing on one leg, inability to hop Q2. How would you assess Connor for this • Slow (or failure of) learning to ride a bike condition? • Difficulty learning to swim Q3. How should you manage Connor and his • Poor at catching, throwing, batting a ball. family? Fine motor problems include: Q4. What is Connor’s prognosis? • Difficulty dressing (clothes on the wrong way round or in the wrong order, difficulty with buttons and zips) Q1. What is attention deficit/hyperactivity • Feeding messy; difficulty using a knife and fork disorder? • Poor at building with bricks, jigsaws, drawing • Poor pencil control for writing This is not a new disorder explained by environmental • Difficulty using scissors and rulers. pollutants or ‘made up’ to explain away naughty 33V0229-F01906.indd 33 2/13/07 5:38:37 PM
  8. 8. children. Frederick Still described children in 1902 be over-estimated because boys show more obvious with a ‘defect in moral control’, which almost certainly aggressive behaviour and girls have more inattention. was ADHD.29 Individuals with ADHD have: The underlying problem • Inattention This appears to be an executive function deficit. • Hyperactivity Executive functions include: Neurodevelopmental disability • Impulsivity: excessive in the context of age, sex and • Self-regulation cognitive ability. • Sequencing of behaviour • Flexibility in response For a diagnosis to be made these symptoms should • Response inhibition be: • Planning • Present in more than one situation • Organization. • Present before the age of 6/7 years • Impairing the child’s educational or social Pathology functioning. Development of the frontal lobes is relatively late and myelination is not complete until adolescence. Inattention Neuroimaging studies have been inconsistent but the There is poor regulation of attention and this is frontal cortex and its connections, as well as intracerebral manifest particularly in difficult, imposed tasks that connections via the corpus callosum, have abnormal are not immediately rewarding. A child may attend to activity. There may be differences in brain volume and a video game or watch a TV programme with sustained size of the cerebellum. Functional magnetic resonance attention but be unable to concentrate in school. imaging (MRI) shows diffuse and decreased activity when individuals with ADHD undertake tasks requiring Hyperactivity concentration. There is abnormal handling of nor- This is manifest differently at different ages: adrenaline (norepinephrine) and dopamine in the • The preschool child will rush around, jumping and brain. This theory is supported by response to treatment climbing noisily and being unable to settle in play. with drugs affecting these neurotransmitters. • The school-age child may be fidgety, squirming and having difficulty remaining seated. Aetiology • The adolescent is restless, with foot-tapping and • Genetics. Genetics is the major factor governing twiddling, and is unable to sit quietly. whether or not a child has ADHD. It has been estimated that there is between 54% and 98% Impulsivity heritability. Impulsivity means not thinking before acting; it often • Environment. This also plays a part, particularly results in getting into trouble for being cheeky or maternal depression and social disadvantage. It reckless. The child may have frequent accidents. is likely that there is an interplay of genetics and environment, with environmental factors maintaining Secondary problems or exacerbating ADHD rather than causing it. Most children have secondary problems, including: • Central nervous system damage. ADHD is also more • Poor self-esteem frequent following: • Poor peer relationships – Perinatal problems and prematurity • Poor relationship with parents – Antenatal insults, such as fetal alcohol • Sleep/wake problems syndrome or maternal smoking • Dietary problems (will not settle to eat). – Head injury, especially frontal lobe damage – Encephalitis and meningitis Epidemiology (Table 29.4) – Hypoxic episodes, such as drowning and ADHD is almost certainly still under-diagnosed in strangling parts of the UK, depending on where the child lives. – Cerebrovascular accidents All studies show a predominance of boys, but this may – Chronic neurological illness, such as epilepsy, Table 29.4 Epidemiology of ADHD metabolic problems (e.g. PKU) Population Incidence – Medical treatments, such as cerebral irradiation, anticonvulsants UK (inner city) 1.5% of 7-year-olds – Certain conditions such as Williams’ syndrome, UK (general) 0.5–1% (hyperkinetic) hypothyroidism, tuberous sclerosis, XYY, XXY 3–7% ADHD 34 and fragile X syndrome.V0229-F01906.indd 34 2/13/07 5:38:38 PM
  9. 9. Q2. How would you assess Connor for this • Unrealistic expectations on the part of parents or condition? teachers • Poor parenting Diagnosis is made by assessing information from a • Bullying variety of sources. This is time-consuming and more • Bored bright child than one clinic visit is usually needed. • Learning difficulties • Sleep problems History • Conduct disorder. • Current concerns, with specific examples, onset of problems and situation • Antenatal and perinatal history for possible risk Investigations factors These are rarely indicated but you may need to exclude • Early development: babies may be hyperactive with other causes of hyperactivity or inattention, such as sleep problems, feeding difficulties, colic, waking hearing loss, epilepsy, thyroid disorders, side-effects of early drugs: • Medical problems for risk factors and differential • Test chromosomes if the child is unusually tall diagnosis (XYY) or has learning difficulties (fragile X) or • Educational problems for difficulties in different dysmorphism. environments • Order an EEG if there is suspicion of subclinical • Relationships with parents and peers epilepsy or absence epilepsy (poor concentration • Family history rarely is absence epilepsy). • Social situation, looking for other causes of difficulties Comorbidities • Possible comorbidities (see below). Comorbidity appears to be the rule rather than the exception in ADHD. The common additional problems Examination are: • Physical and neurological examination for • Reduced cognitive ability (IQ on average is associated problems (e.g. clumsiness), other 5–15 points lower) problems (e.g. hearing, vision) and other diagnoses • Specific learning difficulties (particularly in putting the child at risk (e.g. dysmorphism, reading) tuberous sclerosis) • Delayed language development and poor language MODULE S IX • Mental state looking for poor self-esteem, skills depression, anxiety • Developmental coordination difficulties (DCD) • Developmental assessment: behaviour • Oppositional/defiant disorder and conduct inappropriate for developmental age. disorder (ODD/CD) • Mood disorders (anxiety, depression) Observation in different settings is vital: • Obsessive–compulsive disorders (OCD) • During the initial assessment • Tourette’s syndrome • In school/playground/nursery/playgroup • Autistic spectrum disorders. • At home (parental report may be adequate). It is important to identify these to optimize treatment. Structured questionnaires, e.g. Conner’s Scales, play an important role in the screening and diagnosis of ADHD. Psychometric testing is helpful in identifying those Q3. How should you manage Connor and children whose primary problem is a learning difficulty his family? and comorbid specific learning difficulties. Information is an important aspect of management. Making the diagnosis and making this known to all Differential diagnosis involved may, in itself, help the child, parent and teachers • Physical illness to cope with the ADHD: • Drugs (either prescribed or of abuse) • Oral and written information should be made • Attachment difficulties available. • Social issues (e.g. family break-up) • The child should be informed as well as the • Child abuse (especially if change in behaviour) parents. • Depression/anxiety • Teachers should be informed about the diagnosis • Hearing problems and, if necessary, about what it means. 35V0229-F01906.indd 35 2/13/07 5:38:38 PM
  10. 10. Support groups • Rebound behaviour difficulties These can be very helpful to parents and child. • Tics, although it is not certain that these are a true side-effect or constitute a coexistent tic disorder29 • Marrow aplasia (very rare). Educational measures Simple suggestions can be very helpful such as: Atomoxetine is a non-stimulant selective noradre- Neurodevelopmental disability • Having the child sit near the teacher nergic reuptake inhibitor, which was licensed for use in • Removing distractions where possible ADHD in the UK in 2004. Research suggests that it has • Clear, frequent and small rewards and discipline a significant effect in around 70% of individuals with • Working alone or in small groups ADHD. It is used as a once- or twice-daily medication • Addressing any learning difficulties. (and therefore does not need to be given in school). Side-effects may include somnolence, gastrointestinal effects and rarely liver problems. Behaviour modification Positive reinforcement is very important. Children with ADHD often have low self-esteem. Children respond aspx?o=TA098guidance best to a well-structured, predictable environment where expectations and rules are clear and consistent, and Diet consequences are set down ahead of time and delivered Diet has long been suggested as an important cause immediately. of behaviour problems. Additives in the diet worsen hyperactivity but do not cause ADHD. It is worth checking whether the parents have noticed any foods Medication that cause deterioration in behaviour and removing Medication is the single most effective approach in them from the diet. severe ADHD. Stimulant medications (methylphenidate, dexamphe- Sleep tamine) affect the dopamine pathways in the brain but Many children and young people with ADHD have the exact mechanism of action is unclear. They may poor sleep patterns and cannot usually stop themselves stimulate areas of the brain that are not functioning waking others when they are awake. It is seldom safe properly. They do not affect the underlying pathology but to leave such a child unattended for long and families control some symptoms, so that behavioural management are often very sleep-deprived. This may greatly limit can be more effective, school work can progress and their capacity to cope with their constantly active social relationships can develop better. They work best offspring in the daytime! Although stimulants may in controlling hyperactivity and impulsivity but are less cause insomnia in some children, a teatime dose may effective in controlling inattention. Methylphenidate, the actually help a child to get off to sleep by calming a most frequently used medication, is usually started at a racing mind. In other children, the use of melatonin dose of 2.5–5 mg twice or three times a day, increasing to regulate sleep patterns and quality is very useful. by 2.5–5 mg weekly until the desired effect is achieved. A maximum of 20 mg per dose, or 45–60 mg per day, 4. What is Connor’s prognosis? should be used. If there is no effect after 3 weeks at Some children continue to have difficulties in adult maximum dose, it should be stopped. life. Various groups have reported similar findings, Sustained-release products are now available. These with approximately 30% within the normal range as have a lower incidence of side-effects and, as they are adults, 50–60% continuing to have problems with long-acting, do not need to be given in school. concentration, impulsivity and social interaction, and Between 60 and 80% of children are helped by 10–15% having significant psychiatric or antisocial stimulant medication. Side-effects occur but are not problems (depressed, suicidal, drug and alcohol abuse, usually severe and include: convictions for assault, armed robbery etc.). • Stomach ache and headache The prognosis is best for those children with ‘pure’ • Decreased appetite ADHD and worse for those with severe symptoms, comor- • Sleep disturbance bidities, and poor family and educational support. • Cardiovascular effects (blood pressure should be checked before starting treatment and at follow-up) • Unhappiness/withdrawal The cerebral palsies • Growth suppression (0.5–1.0 cm if treatment is Cerebral palsy (CP) is defined by the Oxford Register 36 continued throughout puberty) of Early Childhood Impairments as:V0229-F01906.indd 36 2/13/07 5:38:38 PM
  11. 11. BOX 29.4 Exercise: terminology in cerebral palsy BOX 29.5 Feedback on terminology Have a go at defining these commonly used terms: • Tone is the resistance of a muscle to passive • Tone stretch (hypertonia — increased resistance, hypotonia — reduced resistance) • Spasticity • Ataxia • Spasticity is a velocity-dependent increase in resistance to passive stretch. Spastic muscles • Athetosis are not necessarily hypertonic. The key is the • Chorea velocity dependency; spasticity is an abnormal • Dystonia response to rapid stretch. Usual associated features are clonus, increased deep tendon reflexes and extensor plantar responses A permanent impairment of voluntary movement or posture • Ataxia is an abnormality in the smooth approach presumed to be due to permanent damage to the immature to an object, with wide-amplitude corrections brain. Children with progressive disorders and those with during the movement. In relation to gait, ataxic profound hypotonia and no other neurological signs (often means broad-based, poorly coordinated associated with severe intellectual delay) are excluded. It • Athetosis is the characteristic of slow writhing is an umbrella term which includes a heterogeneous group movement, usually seen in the distal part of the of conditions and can arise at any point during brain limb during voluntary activity development. • Chorea is rapid, high-amplitude, sudden There are three main types: involuntary movement • Spastic CP, which can be divided into diplegia, • Dystonia is abnormal tone, either high or low. It hemiplegia and quadriplegia depending on areas usually refers to abnormal sustained contractions affected of agonists and antagonists resulting in an • Ataxic CP unusual and abnormal posture, e.g. inversion of • Dyskinetic CP. foot, retraction of shoulders etc. Terminology See Boxes 29.4 and 29.5. severe learning difficulties, may occur as a result of brain injury in late third trimester. Prolonged Classification partial asphyxia in a term infant may be the cause MODULE S IX CP refers to a group of disorders. Classification is (p. 365). Acute profound asphyxia may develop in based upon clinical descriptions of neurological signs. the third trimester as a consequence of antepartum It is commonplace to find mixed patterns with one haemorrhage, cord prolapse or uterine rupture predominant aspect, e.g. hemiplegia with some involve- and may lead to damage in the basal ganglia and ment of the good side, diplegia with asymmetry in the thalami which may be confirmed on MR scanning. upper limbs etc.: The clinical correlate is the later development • 27 Spastic diplegia. Recent magnetic resonance of dyskinetic cerebral palsy, often with relatively 55 studies show that the underlying lesion preserved cognitive function. The contribution of 63 in most cases of spastic diplegia is perinatal asphyxia to the overall prevalence of CP periventricular leucomalacia (p. 367). is debatable, but most agree an estimate of about • 54 Spastic hemiplegia. Spastic hemiplegia 10% of all cases. constitutes about 25% of all cases of CP. Dyskinetic CP may also arise due to bilirubin The cause is usually an infarction within the encephalopathy in the neonatal period. These cases distribution of the middle cerebral artery (p. 367). were more common in the past, but prevention • 12 Total body involvement CP. In these cases the and improved management of rhesus iso- 64 brain pathology most commonly originates immunization have resulted in a dramatic fall in in the prenatal period and may be due to the number of cases. a variety of abnormalities such as primary Ataxic CP (about 5% of CP) is mainly of prenatal cerebral dysgenesis (lissencephaly/pachygyria), origin. There may be strong familial patterns, with early pregnancy infections (e.g. cytomegalovirus autosomal dominant, X-linked and autosomal (CMV), toxoplasmosis), or vascular malformations recessive modes of inheritance. Sporadic cases and vascular accidents (e.g. hydranencephaly). are also seen. Children show ataxia, intention Spastic tetraplegia with bilateral cerebral tremor and dyskinesia, usually before 2 years of hemisphere infarction, sometimes with extensive age. Some may achieve independent walking by cyst formation (multicystic encephalomalacia) and 4–6 years, although in these cases handwriting 37V0229-F01906.indd 37 2/13/07 5:38:38 PM
  12. 12. remains problematic and, in more severe cases, learning difficulties and seizures may complicate the presentation. About 30% show normal or borderline intellectual function. A magnetic29 resonance study of ataxic CP showed that over 50% were unclassifiable, 23% were genetic, and only 4% Neurodevelopmental disability (3 cases) may have had a perinatal cause. Epidemiology Spasticity Fixed musculo- Fixed contracture Prevalence of the cerebral palsies is about 1.7–3 cases/1000 Dynamic contracture tendinous and bony deformity contracture live births. There may have been a trend of increase in Treatment the overall prevalence of CP in children born in the Physiotherapy Surgical Surgical lengthening 1970s and 1980s. The main area of increase has been Orthotics lengthening correction of torsion, in the most immature babies weighing under 1 kg. Botulinum toxin arthrodesis The reasons for this increase are unclear but probably relate to dramatic changes in survival of very immature Fig. 29.1 Spasticity: management infants. Another important aspect of epidemiology is sur- – Infection (e.g. meningitis) vival. Most children with CP now survive to adult life, – Toxins (e.g. hyperbilirubinaemia) even when disease is severe. This is having an impact on – Perinatal asphyxia services for adults as well as children. • Postnatal: – Infection Problem-orientated topic: – Vascular accidents – Head injury (accidental or non-accidental) delay in walking ●●●●● – Encephalopathy – Anoxic event. Matthew is 18 months old and his mother is concerned that he is not yet walking. He is a bright, sociable child, who has several single Q2. What are the possible diagnoses? words. He was born at 27 weeks’ gestation One likely cause for this history is CP and this is and had a difficult neonatal course. confirmed by abnormal physical signs. A familial delay should also be considered, as well as rarer causes such Q1. What questions would you ask to elucidate a as Duchenne muscular dystrophy (p. 17) in boys. cause? It is important to remember that everything that looks like CP may not be. Many infants with complex Q2. What are the possible diagnoses? congenital abnormalities (dysmorphic syndromes) Q3. What are the principles of management? will display central motor impairment. These children will require similar services. Q3. What are the principles of Q1. What questions would you ask to management? elucidate a cause? This depends upon the stage of the disorder (Fig. 29.1). An underlying cause may not be apparent, but the Different approaches to treatment have, from time following should be considered in history-taking: to time, attracted considerable interest and enthusiasm, • Prenatal: as well as opposition. Only recently have attempts been – Genetic made to study the relative merits of each in objective – Infection (e.g. CMV, rubella, chorioamnionitis) ways. No single approach will suit all children with a – Toxins (e.g. drugs) particular form of CP. In most centres in the UK staff – Trauma follow an eclectic approach, deriving therapeutic ideas – Nutritional (‘placental insufficiency’) from a variety of ‘methods’. No study has convincingly • Perinatal: shown benefits of one approach over another. – Prematurity (intraventricular haemorrhage/ Management involves regular assessment of the periventricular haemorrhage/periventricular child (with parent/carer involvement) and close multi- 38 leucomalacia) disciplinary working.V0229-F01906.indd 38 2/13/07 5:38:39 PM
  13. 13. Key professionals reducing contractures. The duration of effect is • The physiotherapist is responsible for development usually 10–14 weeks, and measurable effects may of motor skills, and assessment for lower limb persist for up to 26 weeks. orthoses and specialized supportive equipment, • Baclofen. This analogue of gamma-aminobutyric such as standers and mobility aids. In the early acid (GABA) impedes excitatory neurotransmission stages physiotherapy is aimed at interrupting the at a spinal level. Oral baclofen is rapidly absorbed, circle of malachievement caused by abnormal but is protein-bound and has poor penetration muscle tone. The child’s carers are shown methods into CSF because of poor lipid solubility. The half- of handling and carrying out everyday tasks that life is 3–4 hours, requiring regular dosing (3 times help this. daily). Response to oral baclofen is unpredictable; • The speech and language therapist plays these key a number of children will show a satisfactory roles in CP: response, with reduction in muscle tone, but – Most importantly, helping with feeding early in others will develop unacceptable side-effects, life including somnolence, confusion, difficulties – Helping early communication development with oral control, ataxia and increased frequency – Help with speech, which may be severely of micturition. Recently, baclofen by continuous impaired infusion has been given by an intrathecal catheter – Management of dribbling and pump delivery system to achieve higher – Provision of communication aids. and continuous CSF baclofen levels. Baclofen is • The occupational therapist will assess the need for perhaps most useful when there is generalized equipment to facilitate aspects of daily living, e.g. increase in tone, which would require multiple bathing, toileting, static seating, feeding etc., and injections of botulinum toxin, e.g. in the child with fine motor skill function, perceptual skills and the severe spastic tetraplegia. use of upper limb orthoses. Adaptations may also be required in the home. Surgery The orthopaedic surgeon has a major role to play in management of CP. Orthopaedic surgery may be Specialized equipment indicated to improve function, to prevent deterioration, • Orthoses. The purpose of an orthosis is to restore to relieve pain and to facilitate care. the normal distribution of forces acting through There are two surgical aspects to the management the limb, thereby normalizing musculoskeletal MODULE S IX of CP: relationships and establishing a normal pattern • Selective posterior rhizotomy. Two groups of patients of motion and/or prevention of progressive are most suitable: children who are of good deformity. Hence children with a persistently intelligence, well motivated and sufficiently strong equinus foot may wear an ankle orthosis. Other to achieve walking after spasticity is reduced, and orthoses facilitate hand function. Some children severely affected, non-ambulant patients in whom experience upper limb spasticity at night; a night painful spasm can be reduced. resting splint will hold the hand in a neutral • Single event multilevel surgery with associated gait position in children, thus optimizing functional analysis. When fixed contracture of muscles use during the day. occurs, surgical release has been required to • Special seating, standing and lying frames. These are correct the deformity. The traditional approach used to try to maintain good posture and to give has been to undertake soft tissue surgery in a the child optimal positioning and support for ‘phased’ manner, dealing with one area at a time. feeding and play. Recently it has become clear that this approach • Supportive bracing. This may be needed in some of repeated operations, often on a yearly basis, quadriplegic patients to prevent progression of frequently does not improve long-term function. spinal deformity. As a result, techniques of thorough pre- and post- operative assessment have been developed, in Specific drug treatment particular gait analysis. The latter has led to a better Drugs are now being used more widely in CP: understanding of normal gait in children and • Botulinum toxin A (BT A). This works by chemically hence the abnormal gait of the child with denervating the muscle, allowing it to relax, CP. Detailed surgical planning is based upon which may enable improved gait or easier care, for objective rather than subjective information. Gait example. Relaxation of the muscle may also enable analysis also allows proper objective review after it to grow better by allowing stretching and thereby surgery. 39V0229-F01906.indd 39 2/13/07 5:38:39 PM
  14. 14. Associated problems Other associated problems include: Difficulty may arise from motor problems: • Vision problems. These are common (50%), • Feeding difficulties. Feeding may be a considerable particularly myopia, cortical visual impairment problem, leading to inadequate quantity and quality and squint.29 of intake. Children with spastic quadriplegia or • Hearing problems. These occur in 20–30%, athetoid CP may have such severe feeding difficulties particularly sensorineural deafness. It is also Neurodevelopmental disability that they fail to thrive. Recurrent aspiration during important to look for conductive problems. feeding may lead to serious chest complications, • Learning disabilities. These are found in all types and children with severe CP commonly suffer of CP. Generalized learning difficulties tend to be from significant gastro-oesophageal reflux (up related to severity of physical problems; however, to 70% having oesophagitis). It is important to not all children with severe motor problems have address positioning and consistency of food, and learning difficulties and children with relatively to consider the need for gastrostomy feeding. mild motor problems may have significant A multidisciplinary approach is essential for learning difficulties. significant feeding problems and many places will • Specific learning difficulties. These are also seen more have a ‘feeding clinic’. frequently in CP and can easily be overlooked. • Drooling. This is associated with speech and Assessment can be very difficult if there are severe feeding problems and can be a significant cosmetic motor problems. handicap, as well as being very messy and affecting • Epilepsy. Around 21% of children with CP develop the skin around the mouth and neck. It is usually epilepsy, which may be difficult to control. due to a problem with swallowing saliva rather than • Psychological problems. These may be due to excessive production. Techniques used to help it are: physical difficulties, or children may have – Prompting and rewards for swallowing problems directly related to the underlying – Positioning and exercises to improve oro- brain disorder. motor function and sensory awareness, • Educational issues. Most children will go to now sometimes aided by intra-oral training mainstream school and need a minimum of help. appliances Some adaptations may be necessary, e.g. ramps, – Medication with anticholinergics to reduce handrails, lifts, special toilet facilities and adapted secretions working surfaces in the classroom. – Surgery to direct the ducts further towards the back of the mouth – Occasionally, removal of salivary glands Communication and its – Intraglandular botulinum toxin injections. • Dislocated hips. These are an important disorders complication in CP and routine screening by X-ray Basic science is needed. Good postural management will help to prevent dislocation. When thinking about speech and language development, • Bowel and bladder problems. Incontinence may you must address the different skills necessary for result from learning difficulties, but may be a communication. These include the following. problem of not being able to get to the toilet in time or undress quickly enough. Constipation is Attention control common, particularly in the immobile child and The child must have adequate listening skills and those with restricted diets. It may also be associated attention. with abnormal gut sensitivity and motility. It is important to try to prevent problems by Symbolic understanding explaining to the parents and child about normal Words are symbols, so unless children can understand bowel function and giving dietary advice. If the concept of symbols, they will not understand speech. constipation occurs, the earlier it is treated, the better. Comprehension • Osteopenia. The increased risk of bone fractures Does the child understand spoken language? in children with motor disabilities is linked to reduced bone density. Measures such as weight- Expressive speech bearing, particularly ambulation, good nutrition This is the area of communication most easily identified (especially calcium, vitamin D and magnesium) by both parents and professionals, and so tends to be 40 and sunlight will help. what people concentrate on in the early stages.V0229-F01906.indd 40 2/13/07 5:38:40 PM