Galactosaemia Galactose-1-phosphate uridyltransferase de \201 ciency. Failure to thrive; c ata- racts; hepatomegaly; jaundice, vomiting and diarrhea; mental retardation (if untreated ). Treatment with galactose-free diet. Disorders of lipoprotein metabolism This is a heterogeneous group of disorders resulting in abnormalities of blood lipid pro \201 le. May predispose to cardiovascular disease (see b p.963). 26_McClure_26.indd 967 11/14/2012 3:34:54 PM CHAPTER 26 Inherited metabolic disease 968 Lysosomal storage diseases See also b p.959. This is a large group of disorders due to defe cts in lysosomal function. Mucopolysaccharidoses A group of IMD caused by de \201 ciency in lysosomal enzymes needed to break down glycosaminoglycans (long chain carbohydrate molecules for- merly called mucop olysaccharides). Affects bone, cartilage, tendons, eyes, skin, and connective tissue, leadi ng to accumulation of glycosaminoglycans and progressive cellular and tissue damage. Clinical features are not apparent at birth, but progress with time as storage of glycosami noglycans impacts on tissues and organs. Typical fea- tures include: \200 Neuropathy: \200 Neurodevelopmental delay; hearing loss (conductive/sensory); hydrocephalus. Visual lo ss: Coarsening of facial features. Short stature/skeletal deformities; joint stiffness. Val vular heart disease. peripheral/spinal. \200 \200 \200 corneal clouding/glaucoma/retinal degeneration. Sphingolipidoses Clinically the sphingolipidoses show variable severity. They cause progres - sive peripheral and CNS disease (psychomotor retardation, myoclonus, weakness, and spasti city). Variants of Gaucher and Niemann \200\223Pick disease that do not affect the nervous system are termed non-neuronopathic. Sphingolipidoses \200 \200 \200 \200 \200 \200 \200 \200 \200 \200 Fabry \200\231s disease Gangliosidosis GM1 gangliosidoses GM2 gangliosidoses Tay \200\223Sa chs disease Sandhoff disease Gaucher \200\231s disease Krabbe disease Metachromatic leucody strophy Niemann \200\223Pick disease Fabry \200\231s disease X-linked recessive. Due to a de \201 ciency of alpha galactosidase A, result- ing in the accumulation of globotriaosylceramide within blood vessels and other tissues. Clinical features become evident in early childhood and increase in severity with age \200\224anhidrosis; fatigue; skin lesions (angiokera- tomas: tiny, painless papules); and burning pain of the extremities. Renal failure, heart disease, and stroke increase with age. Other symptoms include tinnitus, vertigo, nausea, and diarrhea. 26_McClure_26.indd 968 11/14/2012 3:34:55 PM LYSOSOMAL STORAGE DISEASES 969 Gaucher \200\231s disease AR. This is the most common lysosomal storage disorder. It is due to de \201 cient activity of beta-glucocerebrosidase and leads to intracellular accumulat ion of glucosylceramide (glucosylcerebroside) within cells of mononuclear phagocyte origin (producing characteristic \200\230Gaucher cells \200\231). Gaucher disease is categorized phenotypically into 3 main subtypes: Type I Gaucher disease: most common form of Gaucher di sease \200\224lacks p CNS involvement. Wide spectrum of severity, ranging from affected inf ants to asymptomatic adults. Usually presents in childhood with hepatosplenomegaly, pancyto penia, and bone marrow in \201 ltration. Severe orthopedic complications, including verteb ral compression, avascular necrosis of the femoral head, and pathological fractures of long bones. acute neuronopathic form of the disorder Type II acute neuronopathic: starts in inf ancy, and death is often by 2yrs of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Type III subacute neuronopathic: Gaucher disease, but has later age of onset and slower pr ogression. subacute form similar to type II Glycoproteinosis A heterogeneous group of disorders of glycoprotein storage. A spectrum of phenotypes include neurological deterioration, growth retardation, visceromegaly, and seizu res. Also coarse facial features, angiokeratoma corporis diffusum, spasticity, and delayed development. Types of glycoproteinosis \200 \200 \200 Mucolipidosi Mucolipidosi Defects in fucosidosis, mannosidosis, sialidosis (mucolipidosis I ) s II (I-cell disease) s III (pseudo-Hurler polydystrophy) glycoprotein degradation: aspartylglucosaminuria, 26_McClure_26.indd 969 11/14/2012 3:34:55 PM CHAPTER 26 Inherited metabolic disease 970 Disorders of fatty acid oxidation Disorders of fatty acid metabolism may be due to de \201 ciency in the acyl dehydrogenase enzyme complex, de \201 ciency in carnitine, or a defect in the carnitine transportation process. \200 Clinical presentation is with acute encephalopathy with recurrent vomiting, lethargy, drows iness, and seizures. Hypoglycaemia is usually observed, as well as hepatomegaly and hyperam monaemia. Episodes of acute encephalopathy are precipitated by periods of prolonged fasting or by intercurrent illness associated with poor feeding. Presentation is usually in the \201 rst 2yrs of life. Diagnosis depends on a high index of suspicion. A positive family hi story or a history of previous acute metabolic crisis during trivial intercurrent illness m ay be present. Diagnosis of a speci \201 c disorder of fatty acid metabolism is establishe d by demonstrating characteristic abnormalities in urinary organic acid excretion and in pl asma acyl carnitine pro \201 les. Abnormalities may not be present when child is well. Mol ecular genetic testing is also available for some disorders. Treatment successfully managed by avoidance of prolonged fasting, high carbohydrate diet, and carnitine supplements. Duri ng intercurrent illness, administration of high carbohydrate diet is required. \200 Medium chain acyl-CoA dehydrogenase de \201 ciency (MCAD) This is the commonest fatty acid oxidation disorder (1/13 000 births) and is due to mutations in the MCAD gene (1p31). Clin ical presentation may vary from asymptomatic to fulminant. Newborn screening programs, uti- lizing neonatal blood spot collection methods, are now in place in many countries for the early detection and management of this condition. 26_McClure_26.indd 970 11/14/2012 3:34:55 PM MITOCHONDRIAL DISORDERS 971 Mitochondrial disorders Disorders of mitochondrial function result in a wide of clinical pr oblems (see Box 24.1). Box 24.1 Disorders of mitochondrial function: clinical problems Common clinical features \200 \200 \200 \200 \200 Lactic acidosis Muscle weakness/hypotonia Poor growth/short stature Neurodevelopmental dela y Seizures Other recognized features \200 \200 \200 \200 \200 \200 \200 Eyes: Ears: Cardiovascular: Respiratory: Diabetes mellitus Stroke Renal tubular dysfunction ophthalmoplegia; retinal degeneration sensorineural deafness cardiomyopathy; arrhythmias periodic breathing Inheritance may be either autosomal dominant/recessive or X-linked or mitochondrial (i.e. m atrilineal), although most arise as de novo mutations. Diagnosis requires muscle biopsy, wi th histochemical studies, electron microscopy, and biochemical studies on isolated tissue. Presence of \200\230ragged-red \200\231 \201 bres in skeletal muscle biopsy is character istic of disorders presenting with myopathy. Leigh \200\231s syndrome Relapsing acute encephalopathy; lactic acidosis; hypot- onia; seiz ures; +/ \200\223 cardiomyopathy; +/ \200\223 hepatic or renal tubular dysfunction. Pearson \200\231s syndrome Failure to thrive; lactic acidosis; sideroblastic anemia; hypoparathyro idism; diabetes mellitus. 26_McClure_26.indd 971 11/14/2012 3:34:55 PM CHAPTER 26 Inherited metabolic disease 972 Peroxisomal disorders Peroxisomes are ubiquitous cellular organelles that function to rid t he cell of toxic material. They contain a number of oxidative enzymes and have an important role in the metabolism of fatty acid molecules. Peroxisomal disorders result in abnormalit ies of lipid metabolism. Classi \201 cation of peroxisomal disorders Disorders of peroxisome development \200 \200 \200 \200 Zellweger syndrome Neonatal adrenoleucodystrophy Infantile Refsum disease Hyperpipecolic ac idaemia Defects in peroxisome function \200 \200 \200 \200 \200 \200 \200 Rhizomelic chondrodysplasia punctata DHAP acyltransferase de \201 ciency Acyl-CoA oxidase de \201 ciency Bifunctional enzyme de \201 ciency X-linked adrenoleucodystrophy* Primary hyperoxaluria \200\223Type 1* Acatalasaemia* Disorders that do not have \200\230severe peroxisome phenotype \200\231. Most peroxisomal disorders are associated with \200\230severe peroxisome phenotype \200\231 and share many common features including: \200 \200 \200 \200 \200 \200 severe neurodevelopmental delay; hypotonia/weakness; seizure; hepatic dysfunction; impaired hearing or vision; Sudanophilic leucodystrophy. Diagnosis is made with liver biopsy and electron microscopy morphologi- cal studies. Blood analysis demonstrates characteristic biochemical abnor- malities (particularly very-long ch ained fatty acid, phytanic acid, and bile salt metabolites). Zellweger syndrome The classic peroxisomal disorder, due to defect in peroxisome biogenesis . \200\230Severe peroxisome phenotype \200\231 (see b p.959); leads to death within few mo nths of birth. Infantile Refsum disease Severe peroxisome phenotype with retinal degeneration, decreased p las- ma cholesterol, increased plasma phytanate. Survival to early childhood. 26_McClure_26.indd 972 11/14/2012 3:34:55 PM DISORDERS OF NUCLEOTIDE METABOLISM 973 Disorders of nucleotide metabolism A miscellaneous group of disorders characterized by abno rmalities in enzymes responsible for metabolism and removal of the purine and pyrim- idine components of proteins and amino acids. Classi \201 cation of disorders of nucleotide metabolism Disorders of purine metabolism \200 \200 \200 \200 Lesch \200\223Nyhan syndrome Gout Renal lithiasis (adenine phosphoribosyltransferase (APRT) de \201 ciency) Xanthinuria (xanthine oxidase de \201 ciency) Disorders of pyrimidine metabolism \200 \200 Type I and II orotic aciduria Ornithine transcarbamylase de \201 ciency Lesch \200\223Nyhan syndrome X-linked recessive. Due to a de \201 ciency in hypoxanthine \200\223guanine phospho- ribosyltransferase (HPRT) leading to the formation of excessive ur ic acid. Children are normal at birth and symptoms and signs develop in the \201 rst few months. Classic clinical features include: \200 Severe neurodevelopmental impairment. \200 Behavioral problems including self-mutilative biting of \201 ngers and lips. \200 Spastic CP. \200 Choreoathetosis. \200 Uric acid urinary/renal stone development. \200 Megaloblastic anemia. \200 Short stature. \200 Vomiting. Biochemical analysis demonstrates increased plasma and urinary uric acid levels. Molecular genetic testing for mutations in the HPRT gene is available. 26_McClure_26.indd 973 11/14/2012 3:34:55 PM CHAPTER 26 Inherited metabolic disease 974 Disorders of porphyrin metabolism The porphyrins are the main precursors of haem, and essen tial constit- uents of hemoglobin, myoglobin, the respiratory and P450 liver cyto- chromes, and of other enzymes (catalases and peroxidases). De \201 ciency in porphyrin pathway lea ds to accumulation of precursors, which are toxic to tissues in high concentration. The che mical properties of these precur- sors determines the site of tissue accumulation, and whet her they induce photosensitivity. The porphyrias (Table 26.3) may be inherited or acquired. They are broadly classi \201 ed as hepatic porphyrias or erythropoietic porphyrias, based on the site of the overproduction and main accumulation of the porphyrins. They manifest with either skin problems or with n eurological complications (or occasionally both) and present either acutely or non- acutely . \200 Hepatic porphyrias: are characterized by acute neurological attacks manifesting as seizures , neuropathy, behavior problems/pyschosis, and hallucinations. Muscle (back) pain, vomiting , and abdominal pain are also common. Acute episodes may be triggered by exposure to certai n drugs (e.g. alcohol, oral contraceptive agents, and certain antibiotics) and by other che micals and certain foods. Fasting can also trigger attacks. Erythropoietic sensitive bliste ring rash and increased hair growth. porphyrias: present with skin problems, including light- Spectroscopic and biochemical analysis for abnormalities in porphyrin metabolite pro \201 le in urine and stools is required for diagnosis. In nearly all cases of acute porphyria sy ndromes, urinary porphobilinogen is markedly elevated (except in ALA dehydratase de \201 c iency). Treatment Acute porphyria High carboydrate diet and avoidance of precipitating factors. Hae mearginate (early in acute episode). Symptomatic treatment. Erythropoietic porphyrias The skin rash that occurs in erythropoietic porphyrias generally requires use of sunscreens and avoidance of bright sunlight. Chloroquine may be used to inc rease porphyrin secretion. 26_McClure_26.indd 974 11/14/2012 3:34:55 PM DISORDERS OF PORPHYRIN METABOLISM 975 Table 26.3 Types of porphyria Porphyria type Inheritance/ site Enzyme System involved Acute porphyrias Acute AR/hep. ALA-dehydratase Neurovisceral Acute/intermittent AD/hep. Porphobilinogen deaminase Neurovisceral Hereditary coproporphyria AD/hep. Coproporphyrinogen oxidase Neurovisceral + cutaneous Variegate porphyria AD/mixed Protoporphyrinogen oxidase Neurovisceral + cutaneous Non-acute porphyrias Congenital erythropoietic porphyria AR/erythro. Uroporphyrinogen III cosynthase Cutaneous Porphyria cutanea tarda AD/erythro. Uroporphyrinogen decarboxylase Cutaneous Hepatoerythropoietic porphyria AR/erythro. Uroporphyrinogen decarboxylase Cutaneous Erythropoietic protoporphyria AD/erythro. Ferrochetalase Cutaneous AR, Autosomal recessive; AD, autosomal dominant; hep., hepatic; erythro., erythropoietic 26_McClure_26.indd 975 11/14/2012 3:34:55 PM CHAPTER 26 Inherited metabolic disease 976 Disorders of metal metabolism and transportation Wilson disease See b p.346 Autosomal reces sive (1/30,000 births); due to mutation in the ATP7B gene that encodes for a cell membrane ATP-sensitive copper pump. The con- dition results in a build-up of intracellular hepatic c opper with subsequent hepatic dysfunction, neurological abnormalities, and haemolytic anemi a. Symptoms and signs Usually develop from the age of 10yrs onwards (rare <5yrs). Half of patients \201 rst pre sent with chronic active hepatitis (which may lead to cir- rhosis), and half with neurologi cal symptoms including mood disorder, psychosis, and features consistent with Parkinson \200\231s disease. Haemolysis is usually present only in severe cases. Other features seen include renal tubular acidosis, renal stones, and cardiomyopathy. Diagnosis \200 Low plasma concentrations of caeruloplasmin (in 80% of patients). Elevated 24hr urinary cop per excretion. Ophthalmoscopy to detect Kayser \200\223Fleischer rings (although their abse nce does not rule out Wilson disease). Treatment \200 \200 Lifelong chelating agents (e.g. D-penicillamine). Liver transplantation may be needed in se vere disease. Menkes disease X-linked recessive. Caused by mutation in the gene encoding Cu2+- transporti ng ATPase, alpha polypeptide. The disease is characterized by: \200 \200 \200 early onset growth retardation; peculiar hair development (sparse, steely, or kinky hair); focal cerebral and cerebellar degeneration. The phenotype also includes hypotonia, seizures, microcephaly, and oste- oporosis. Predispo sition to intracranial hemorrhage is also recognized. Biochemical analysis reveals low plasma levels of caeruloplasmin and copper. 26_McClure_26.indd 976 11/14/2012 3:34:56 PM DISORDERS OF METAL METABOLISM AND transportation 977 Haemochromatosis At least 4 inherited iron-overload disorders have been identi \201 ed: \200 Classic haemochromatosis (HFE 1): 200 to 1 in 400 of population. Caused by mutation in eith er HFE gene (on 6p21.3) or haemojuvelin gene (HJV) (1q21). Juvenile haemochromatosis (HFE 2 ): Haemochromatosis type 3 (HFE 3): Haemochromatosis type 4 (HFE4): autosomal recessive affecting 1 in \200 \200 AR. AR. AD. The clinical features of haemochromatosis are wide ranging and include: \200 \200 \200 \200 \200 \200 \200 hepatomegaly; Splenomegaly. Cirrhosis of the liver. Hypermelanotic pigmentation of the skin . Heart failure (cardiomyopathy). Joint stiffness and arthritis. Involvement of the endocri ne glands: adrenal insuf \201 ciency, gonadal failure, and hypopituitarism. Increased susc eptibility to certain infections is recognized (e.g. Salmonella, Klebsiella). can lead to diabetes mellitus, Primary hepatocellular carcinoma complicating cirrhosis is responsible for about one-third of deaths in affected homozygotes. Diagnosis Increased serum iron and ferritin levels. Liver biopsy. Treatment Repeated therapeutic phlebotomy. 26_McClure_26.indd 977 11/14/2012 3:34:56 PM This page intentionally left blank 979 Chapter 27 Community child health Introduction 980 Voluntary and charitable organizations 980 Organizations and structures 98 1 Health surveillance and promotion 982 Special educational needs 986 Children with disabil ities 987 Speci \201 c learning dif \201 culties 988 Chronic fatigue syndrome 990 Absence from school 991 Constipation and soiling 992 Enuresis 994 27_McClure_27.indd 979 11/14/2012 3:36:32 PM CHAPTER 27 Community child health 980 Introduction Community child health includes disability, social pediatrics, general pae- di atrics and health promotion. It involves close working with children \200\231s services fro m education and social care, as well as the primary health care team. Within a given area a child may have contact with a variety of profes- sionals varying acco rding to the child \200\231s needs. Multidisciplinary and multi- agency working is essentia l in order for the child \200\231s and family \200\231s needs to be effectively met. Voluntary and charitable organizations Many different services are available and there is o ften a close connec- tion between these and statutory agencies particularly for children wi th disabilities. \200 Homestart: families who have children aged <5yrs. Mencap: ages and causes. Scope: national charity with focus on CP National Autistic Society Contact a Family: volunteers offer support in the family \200\231s own home to long established national charity for learning disabilities \200\224all \200 \200 advice for families with disabled children. 27_McClure_27.indd 980 11/14/2012 3:36:32 PM ORGANIZATIONS AND STRUCTURES 981 Organizations and structures The following agencies are responsible for the organization an d delivery of child health services in the community. Primary health care team \200 The general practitioner (GP). \200 Practice nurses. \200 Midwives \200 Health visitor and community nursery nurses \200 School nurses for mainstream and special schools \200 District nurses. The local authority The local authority has responsibilities for the administration and del ivery of education and social care. \200 The Children Act 2004 requires that local authorities have a director for children \200\231 s services and a lead member responsible for children. In the UK, central government is res ponsible for establishing national policies and guidance and overseeing standards via vario us means of inspection, but local need determines what services are available. Education In the UK there are two levels of services: \200 Central and administrative level (local authority departments): \200 provide support to schools (includes educational psychology, specialist teachers for learni ng, behavior, senses, and educational welfare); responsible for initiation, coordination, a nd provision of statement of special educational needs according to the 2001 Special Educat ional Needs and Disability Act. Schools and nurseries: \200 \200 \200 \200 \200 are directly managed by their governing body; have a special educational needs co-ordinator (SENCO); are allocated some funds to support children with special needs. have access to s pecialist educational services; are given extra resources as speci \201 ed in statements o f special educational needs for individual children within the school. Specialist pediatric services \200 \200 \200 Include pediatricians in hospital and community Specialist nurses: e.g., diabetes, epilepsy , asthma) Community pediatric nursing teams: in other settings for children with complex ne eds provide nursing care at home and 27_McClure_27.indd 981 11/14/2012 3:36:32 PM CHAPTER 27 Community child health 982 Health surveillance and promotion Disease prevention includes the following:1,2 \200 \200 \200 Primary Secondary Tertiary dislocation in CP, hypothyroidism and hearing problems in childr en with Down syndrome. prevention: immunizations; accident prevention; dental care. prevention: screening for inherited conditions. prevention: reducing impairments and disabilities, e.g. hip Primary prevention programs These are designed to reduce the number of new cases of disease and disorder presenting within the community. Examples of primary prevention programs \200 Reducing the incidence of infectious diseases \200\224immunization program (see b p.728) Re ducing the risk of sudden infant death Reducing parental smoking Preventing accidents and p oisonings Improving nutrition \200\224breastfeeding promotion Preventing dental disease Pro moting child development Preventing child abuse \200 \200 \200 \200 \200 \200 There is also a range of early intervention programs designed to pro- mote child developmen t, reduce the risks of child abuse and accidental injury, and improve parents \200\231 ment al health. Children \200\231s centers provide a variety of services to preschool children a nd their families, and often are a base for different organizations and services. Primary prevention programs may be aimed at parents and the family (e.g. poor housing, pove rty, illness, disability). Many programs are also targeted towards at-risk groups (e.g. LBW babies, mothers with postnatal depression, families living in poverty). There are well established group parenting support programs on offer which focus on behavio r management particularly. Some are intensively delivered by skilled professionals for at-r isk young \201 rst time mothers.3 Secondary prevention These programs reduce the prevalence of disease. The Child Health Prom otion Program in the UK has been the remit of the primary care team, and recent government guidance2 recommends a much more focused universal approach, with additional services for t hose with speci \201 c needs and risks. 27_McClure_27.indd 982 11/14/2012 3:36:33 PM HEALTH SURVEILLANCE AND PROMOTION 983 Antenatal screening is a very important component of this, beginning in early pregnancy and is universal at 28wks gestation with an increased focus on those women at higher risk or f amilies requiring extra support or services.(Table 27.1). Table 27.1 An approach to child health surveillance Age Screening procedure Newborn General examination with emphasis on eyes, heart, hips 5 \200\2238 days old Blood spot test (hypothyroidism, PKU, CF, metabolic) up to 4wks Universal newborn hearing screen 6 \200\2238wks old Examination with emphasis on eyes, heart, hips By 1yr Health review 24 \200\22330mths Review and promotion of development Between 4th and 5th birthdays Orthoptist assessment of vision to be phased in School entry Measurement of height and weight; hearing screening Primary school No further screening program Secondary school No universal screening Other opportunities for health professional contact include immuniza- tions. Early detection of health problems is achieved by: \200 \200 \200 Follow-up of babies at risk (e.g. low birth weight, premature). Follow-up of children with neurological problems or post-trauma. Targeted observation or follow-up of children with a strong family history of genetic disorders, e.g. hearing, vision, dislocated hips, learning dif \201 culties, familial hypercholesterolaemia. Detection by parents or health professi onals (i.e. neglect). Detection by professionals in the course of their work (particularly playgroup, nurseries, and schools, as well as health professionals). \200 Within each district the preschool program will vary according to what families need and wi ll be targeted to those who are \200\230high risk \200\231. 27_McClure_27.indd 983 11/14/2012 3:36:33 PM CHAPTER 27 Community child health 984 Particular concerns for preschool programs \200 \200 \200 \200 \200 \200 \200 \200 \200 \200 \200 \200 \200 First pregnancies and \201 rst time mothers Isolated mothers Mother with postnatal depres sion Unsupported, young parent living in poverty Domestic violence; drug or alcohol abuse P arents with learning disability Concern about child neglect or abuse Infant with dif \201 cult feeding, sleeping, or temperament Premature baby or child who is disabled Refugee fami lies Smoking (pregnancy or postnatal) Obesity in parents Poor attachment and inconsistent c are References 1. Hall DMB, Elliman D (eds) (2004). Health for all children, 4th edn. Oxford: O xford University Press. 2. Department of Health (2008). The child health promotion program. London: DoH. 3. Family Nurse Partnership program (2006). Olds. London: FNP. 27_McClure_27.indd 984 11/14/2012 3:36:33 PM HEALTH SURVEILLANCE AND PROMOTION 985 27_McClure_27.indd 985 11/14/2012 3:36:33 PM CHAPTER 27 Community child health 986 Special educational needs 20% of children have special educational needs at some time (see Box 27.1). Only 2% have a statement of special educational needs. Box 27.1 Reasons for children having problems at school \200 \200 \200 b p.564) Global developmental delay (severe, detected preschool) ( General learning dif \201 cultie s ( Speci \201 c learning dif \201 culties including dyslexia and dyscalculia (b p.988) D evelopmental co-ordination disorder (i.e. dyspraxia) ( Behavioral problems ( Asperger \200 \231s syndrome/high functioning autism ( Emotional dif \201 culties (family, bullying, sch ool phobia) ( Depression in adolescents ( Physical illness ( Chronic fatigue ( b p.566) \200 \200 \200 \200 \200 \200 b p.566) b pp.561, 598) b p.602) b p.991) b p.578) b p.802) and disability (b p.987) b p.990) Statutory assessment of special educational needs (UK) The Disability Discrimination Act 19 95 and amendments legislate for no discriminate against people with disabilities. Schools i mplemented this Act in 2002. The Special Educational Needs and Disability Act 2001 requires : \200 \200 \200 Promotion of the inclusion of such pupils in mainstream schools. A graduated response to as sessment and help. Advice from other professionals including health and education before st atutory assessment. Statutory assessment under the Education Act \200\224UK The assessment under the Education Act includes advice from: \200 \200 Parents and child Health: a community pediatrician \200\224 \200\230designated medical of \201 cer for education \200\231; collates all medical and therapy advice Education and educ ational psychology Social services \200 A provisional statement by the education department is seen by the par- ents before it is \201 nalized (see b p.987). The annual review is required to ensure that targets and needs have not changed. 27_McClure_27.indd 986 11/14/2012 3:36:33 PM CHILDREN WITH DISABILITIES 987 Children with disabilities This includes children with physical and/or learning disabilitie s. Multi- agency assessments including medical information and a management plan are requir ed. A \200\230key \200\231 worker for these families should be identi \201 ed in order to minimize disruption and co-ordinate care. Early Support is a national program that has bee n developed to facilitate this process, and there is a wide range of information available for families and profes- sionals to access. Many severely disabled children will also have a statement of special edu- cational needs E ach child needs an individual educational plan to identify targets and a means of achieving them, which is regularly reviewed. Other agencies, including therapists and doctors, must ensure that health needs are also met. Therapy advice and targets are given to teachers and school support staff and are incorporated into the child \200\231s daily curriculum. The UK Children \200\231s Act stipulates that children with disabilities may require additi onal services, including social care and respite for the family. Particular issues for families \200 \200 Home adaptations Specialist equipment provision: bathing, toileting Augmentative communicat ion: therapy Financial support: \200 \200 \200 standing frames, mobility, feeding, signing, symbols, speech-aids, speech may be eligible for: Disability Living Allowance (not means tested) Invalid Carer \200\231s Allowance (dependent on income) Mobility Allowance (related to level of physical and learn ing dif \201 culty) \200 \200 Learning disabilities and challenging behaviors (common) Multiplicity of appointments Lack of co-ordination of care 27_McClure_27.indd 987 11/14/2012 3:36:33 PM CHAPTER 27 Community child health 988 Speci \201 c learning dif \201 culties Dyslexia Children of normal intelligence who have not learned to read despite exposure to adequate instruction: \200 \200 Etiology uncertain; often family history, M:F 4 \200\2238:1. Cognitive processes involved i nclude decoding (converting letter strings into sound sequences), encoding (spelling), and linguistic comprehension. Diagnosis is educational but a child may have language dif \201 culties and/ or co-ordination dif \201 culties. If severe, can lead to low self-esteem and school refusal. Dyslexia support societies (national and local) are often helpful. Special ist advice and support required from education. Pediatrician \200\231s role is limited to c onsider the diagnosis and exclude other conditions. \200 \200 \200 Dyscalculia A speci \201 c learning disability affecting the acquisition of arithmetic ski lls. Less commonly recognized than dyslexia. Can co-exist with writing dif- \201 culties and DCD. Developmental co-ordination disorder See b p.568 Previously referred to as dysprax ia or clumsy child syndrome. De \201 ned as marked impairment in the development of motor abilities not explained by mental retardation and not due to a physical disorder. The diagn osis is only made if this impairment interferes with academic achievement or with activitie s of daily living: \200 \200 \200 Prevalence: Presenting features and signs (see Box 27.2). Characterized by perceptual dif \201 culties that impede academic progress. For example: \200 poor motor planning; \200 poor visual perceptual skills (discrimination, memory, visual spatial). Clinical assessmen t: \200 10% of 8 \200\22312-yr-olds; 1 \200\2233% of all children. M:F 4:1. neurological examination to exclude other conditions (mild CP, muscle disease); overlapping with other conditions including autism and social skills problems; may have additional lea rning dif \201 culties. Treatment: \200 \200 Advice to school as well as parents is vital. physiotherapy; occupational therapy. 27_McClure_27.indd 988 11/14/2012 3:36:33 PM SPECIFIC LEARNING DIFFICULTIES 989 Box 27.2 Presenting features and signs of DCD Presentation \200 \200 \200 \200 \200 \200 Poor motor skills Dif \201 culty using cutlery Dif \201 culty dressing and riding bike Po or attention and organization Problems with school progress (reading, copying, math) Behavi or problems (disruptive, low self-esteem) Signs \200 \200 \200 \200 \200 \200 Muscle tone may be low \200\223normal Poor balance Poor co-ordination Excess of over \202 ow movement on effort Persistence of primitive re \202 exes Associated sensory dif \201 c ulties: hypo/hypersensitive to touch, sound, light, taste, smell 27_McClure_27.indd 989 11/14/2012 3:36:33 PM CHAPTER 27 Community child health 990 Chronic fatigue syndrome Chronic fatigue syndrome (CFS) is de \201 ned as generalized fati gue persist- ing after routine tests and investigations have failed to identify underlying cause. The fatigue in CFS may be associated with other symptoms: \200 \200 \200 Dif \201 culty in concentrating; cognitive dysfunction. Disturbed sleep. Fatigue (both men tal and physical) exacerbated by effort. The diagnosis should be made as soon as it is clear that the symptoms are causing functiona l impairment and no alternative explanation has been found (3mths in children). Investigation Routine investigations need to be undertaken to rule out plausible alterna- t ive causes. Second-line investigations are only undertaken if symptoms/ signs or investigat ions suggest a particular diagnosis. Investigations for chronic fatigue syndrome \200 \200 \200 \200 \200 \200 \200 FBC and \201 lm, ESR Glucose, biochemistry, CK (muscle), liver function test Thyroid test s Urine to exclude renal disease Screening tests for gluten sensitivity Assessment of ferri tin levels EBV or viral tests only if history indicates recent infection An assessment of psychological well-being is essential and psychiatric dis- orders need to be excluded. Psychological morbidities such as anxiety and depression are common and import ant to recognize. Management There is no one single approach for all patients with CFS, but as a mini- mum th e following should be addressed. Activity management. Establish baseline level and gradually increase as appropriate. Referr al to physiotherapy and occupational therapy to supervise program and treat symptoms. It is widely assumed that the correct approach is the use of graded activity and CBT, as support ed by the literature in adults. However, some patients \201 nd it unacceptable to use psy chological treat- ments and have found that any exercise is to be avoided. Parental men- ta l illness, especially depression and anxiety, should be assessed. Treating these presentati ons may be important in a holistic treatment plan. Other management \200 \200 \200 Symptomatic treatment Dietary advice Treatment psychiatry team. for pain, sleep. (e.g. poor appetite or weight gain due to immobility). for depression and mood disorders \200\224need referral to child 27_McClure_27.indd 990 11/14/2012 3:36:33 PM ABSENCE FROM SCHOOL 991 CFS and education CFS causes signi \201 cant disruption to school. The length of absence f rom school depends on severity and will range from part time attendance to home tuition for many years. Liason with the school is essential in order to formulate a plan for return. S upport in school may be needed for mobility or learning, and for some a statement of specia l educational needs will be required. If the child is too unwell to attend school, home tui tion can be organized with support from the pediatrician but the maximum per week is usuall y a few hours and the child \200\231s needs should be monitored closely. Prognosis Severe or very severe CFS (house bound or bedridden for 3mths) on rare occasions requires admission to hospital. Some cases the condition may persist for many years. Genera lly, though, outcome is favorable.1 Reference 1 NICE (2007). NICE guidelines for chronic fatigue, No. 53. London: NICE. Absence from school This may be due to long-term illness (710%). In many situations the abs ence from school may be the result of poor provision of extra support in class and/or infor mation and training of the school staff. CFS is an important cause of school absence (see b p.990). Absence due to school refusal has a wide range of contributory factors (see Box 27 .3). Box 27.3 Factors contributing to refusal to go to school \200 \200 School phobia Anxiety concerning: \200 peers (bullying) \200 teachers \200 dif \201 culties with home life \200 emotional problems Poor academic progress whatever reason Tru ancy and antisocial behaviors Distressing symptoms such as soiling or wetting \200 \200 In most cases a thorough medical assessment is needed to ascertain the cause of chronic or recurrent school absence. When it is thought appro- priate, home tuition can be provided un til the child returns to school. 27_McClure_27.indd 991 11/14/2012 3:36:34 PM CHAPTER 27 Community child health 992 Constipation and soiling See also b p.306. This is a common problem in childhood.1 Critical periods occur around the time of infant weaning, toilet training, and starting school. Con stipation may follow a period of dehydration leading to hard stools that become painful to pass. The child therefore holds on to stool. Secondary soiling (over \202 ow) is common an d leads to anxiety at school that may lead to school refusal. It is important to review the past medical history for pos- sible underlying reasons and causes of constipation. Taking the history Find out when problem \201 rst arose. In infants ask about: \200 \200 \200 Delay in passage of meconium Abdominal distension in early infancy Explosive stools These are possible indicators of underlying HSD or short segment bowel Also ask about: Possible precipitants Current diet and \202 uid intake Psychological fact ors \200 \200 \200 \200 \200 \200 coercive or chaotic toilet training fear of toilet parental neglect/discord /illness enviro nmental stressors Examination and investigations Examination \200 Inspect anus for: \200 \200 \200 \200 Palpate abdomen General examination of child including growth: rarely presentation of hypothyroidism \201 ssures infection skin disease \200\224excoriation/ \201 stula dilatation \200 Investigations \200 AXR (to demonstrate fecal loading) \200\224not routinely needed for diagnosis Bloods: \200 FBC \200 TFT 27_McClure_27.indd 992 11/14/2012 3:36:34 PM CONSTIPATION AND SOILING 993 Management Throughout this time parents and child will need considerable support from the n ursing team (i.e. health visitor/school nurse/specialist nurse). Short-term constipation with no soiling \200 \200 , lactulose or docusate. Soften retained stool, e.g. oral Movicol Colonic stimulant orally, e.g. oral senna. Continu e until bowel pattern regular and then decrease. Long-term and soiling \200 Soften retained stools for at least a week, e.g. lactulose/ docusate/ Movicol ). Oral colo nic stimulant, e.g. senna, single daily dose until stool passed. If no stool passed conside r using: \200 \200 \200 \200 oral bowel evacuation preparation; enema; manual evacuation as a last resort (necessary if evidence of impaction). Maintenance treatment \200 \200 \200 \200 \200 \200 Increase dietary \201 bre and \202 uid. Regular bulk laxative. Regular colonic stimulan t. Persist with medication for at least 6mths. Behavior management may be needed to establi sh toilet routine. Assessment by a clinical psychologist and family therapist if there is a degree of family discord. In resistant cases treatment will need to be continued for longe r.