Blood biochemistry \200 renal failure \200 function tests: liver disease \200 U&E: Liver Plasma (GLUT1) de \201 ciency Plasma Ammonia: Thyroid Urate: Plasma Very Copper Caeruloplasmin: glucose and matching CSF glucose: glucose carrier transportation \200 \200 \200 \200 \200 \200 \200 lactate and matching CSF lactate: mitochondrial cytopathy urea cycle defects function tests: thyroid disease Lesch \200\223Nyhan disease and purine disorders amino acid s: aminoacidopathies long chain fatty acids: peroxisomal disorders level: Menkes disease Wilson disease Special blood investigations \200 \200 Vacuolated WBC and Batten \200\231s disease lymphocytes: Batten \200\231s disease and other storage disorders enzymes including Batten \200\231s enzymes: lysosomal storage disorders Urine \200 and organic acids: organic acidurias, MTHFR de \201 ciency, Amino sulphite oxidase de \201 ciency Urate, purine/nucleotide phosphorylase de \201 cien cy Hydroxybutyric de \201 ciency Mucopolysaccharides: creatinine, purine, and pyrimidine over 24hr: Lesch \200\223Nyhan, acid: succinate semialdehyde dehydrogenase mucopolysaccharidoses Tissue biopsies \200 \200 \200 \200 Liver: Skin Muscle: Rectal: Alper \200\231s disease (choelesterol esteri \201 cation): Niemann \200\223Pick type C mitochondrial disease Batten \200\231s disease Eyes Ophthalmology review: retinitis pigmentosa and other ophthalmological markers of neuro logical disorders e.g. cherry red spots Electrophysiology \200 \200 evoked responses: Batten \200\231s disease Visual EEG: status epilepticus and regular spike wave discharges (e.g. progressive myoclonic epilepsies, such as lafora body, gangliosidose s) 14_McClure_14.indd 537 11/14/2012 3:36:10 PM CHAPTER 14 Neurology 538 Neuromuscular disorders See also the \202 oppy infant (b p.136). In children with neuromu scular problems, \201 rst think about the anatomical site that is affected (Fig. 14.7). \200 \200 \200 \200 \200 \200 b p.539). Brain (see Cerebral insult Spine (see Spinal cord lesions Anterior horn cell (see Periphera l nerve ( Neuromuscular junction ( b p.546). Muscle ( b p.539). b p.540). b p.541). b p.544). Cranial nerves Spinal cord Corticospinal tract from upper motor neuron-spinal lessions, including transver se myelitis Lower motor neuron branching of the spinal cord- neuropatheis and guillain bone syndrome Neuromuscular junction congenital and acquired myasthemia Myotonic Dystrophy Muscular Muscular Dystrophies Myopathies Fig. 14.7 An example of a motor neuron. 14_McClure_14.indd 538 11/14/2012 3:36:11 PM NEUROMUSCULAR DISORDERS 539 Cerebral insult Any brain insult may make a child unreactive and move less. In these child- ren there may be obvious signs of cerebral dysfunction such as enceph- alopathy. Facial mo vement and peripheral power are good if the child is able to follow commands. However, they may have low tone in the trunk, with relatively better tone at limb extremities. Good exam ples are Down or Prader-Willi syndromes. Re \202 exes should be present. If there is damag e to the upper motor neuron then there will be spasticity with increased tone and brisk re \202 exes, e.g. cerebral palsy. Spinal cord lesions Spinal tumors and transverse myelitis should produce a rough level, beneath which there will be upper motor neuron signs or a sen sory level or both. Spinal cord tumors are normally associated with a number of signs inclu ding constipation and urinary symptoms. There are particular signs which should always be i nvestigated. When to worry about a spinal cord lesion \200 Neurological signs, particularly when objective, e.g. hypere \202 exia and paresis, at a l evel beneath C1 Back pain with no other signs in children under 11yrs Change in urinary fun ction or bowel habit with back pain in older children \200 Transverse myelitis Quick onset (i.e. in days and sometimes hours) of weakness, and/or anae s- thesia, and/or urinary dysfunction, and/or bowel disturbance, often within a week of a m inor viral infection. It may be associated with back pain. Although later on there will be upper motor neuron signs, where there is an acute presentation, there may be reduced re \202 exes and power for the \201 rst days. However, where the weakness continues there wi ll be a gradual increase in the re \202 exes and tone. Urgent imaging of the cord by spina l MRI with gadolinium required to exclude cord compression, and in many cases will con \201 rm appearances of myelitis. Management \200 admission for monitoring of respiratory status (use FVC; see Immediate b p.49). Review for urinary and GI disturbance. Feeding/swallowing assessment. Early introduc tion of physiotherapy and occupational therapy to avoid joint contracture. Control of pain. Methylprednisolone: least 30min for 3 days) normally used initially, if no response consid er other immune-modulatory therapy. \200 IV treatment (30mg/kg, given over a period of at 14_McClure_14.indd 539 11/14/2012 3:36:11 PM CHAPTER 14 Neurology 540 Anterior horn cell disorders Disorder here produces \202 accid, are \202 exic limb, norm ally sparing the face. Polio \200 \200 Now rare. May still be seen following vaccination, or in immigrants. Long-term, the limb be comes \202 accid and wasted. Spinal muscular atrophies See also b p.945. Con \201 rmation of these conditions includes \201 brillation on EMG and homozygous deletion of survival motor neuron (SMN) gene. \200 0 (neonatal form): very severe, often with arthrogryposis. Type \200 Type 1 (Werdnig \200\223Hoffman): severe with onset in the \201 rst months of life. Typically, there are \200\230bright eyes \200\231, severe hypotonia, \200\230frog-like posture \200\231, are \202 exia, and weakness that is present more in the legs than arms. Normally fatal by 2yrs of age. Type weakness, absent re \202 exes, and scoliosis. Type disturbance, loss of re \202 exes, and low tone. 2: onset in the \201 rst years of life with low tone, peripheral 3: adolescent onset with progressive weakness and gait These disorders will have similar DNA results, so do not make a prognosis on the basis of t he DNA result. They are very complicated, and will need to be reviewed by specialists, with reference to: \200 \200 \200 An accurate prognosis based on clinical assessment. Advice on appropriate therapies e.g. in vasive ventilation for type 1. Multidisciplinary support for occupational, physio and speec h therapies, as well as dietary, respiratory, neurological, psychological and social suppor t. 14_McClure_14.indd 540 11/14/2012 3:36:11 PM PERIPHERAL NEUROPATHIES 541 Peripheral neuropathies Charcot \200\223Marie \200\223Tooth disease (hereditary motor and s ensory neuropathies) This refers to a group of disorders with mainly autosomal dominant inh eritance: \200 The lower limbs with peroneal muscle weakness and atrophy. Also there is L ater, these patients in a glove and stocking distribution. hallmark is progressive distal weakness, initially presenting in the \200 clumsiness and loss of \201 ne motor control. develop sensory disturbances with pins and needles The most common types are: \200 Type conduction studies due to demyelination. Type degeneration. Type Sottas syndrome. Char acterized by very slowed motor nerve conduction velocities. 1: demonstrates reduced conduction velocities on nerve 2: near normal nerve conduction and symptoms due to axonal 3: has an onset much earlier and is sometimes called Dejerine \200\223 The diagnosis of these conditions is based on the clinical picture, nerve conduction studie s, and genetic analysis of the P0, PMP 22, (AD) and, less commonly, the Connexin 32 gene (X chromosome). There are now other genetic tests available including mitofusin 2 and ganglio side-induced differentiation-associated protein (GDAP). Treatment is symptomatic with physiotherapy and orthoses in order to encourage joint mobili ty and maintain range of movement. Particular emphasis is put on the avoidance of contractu res in the hands \200\224 \200\230clawing \200\231, as well as peroneal muscle weakness, wi th foot drop and shortening of the Achilles tendons. Other neuropathies Neuropathy may also occur in many systemic disorders, including the foll owing conditions: \200 Leucodystrophies. \200 Porphyria. \200 Diabetes. \200 Uraemi a. \200 Hypothyroidism. \200 Vitamin de \201 ciencies (B \200 Autoimmune disorders s uch as SLE. \200 Acutely as part of the Guillain \200\223Barr syndrome (G-BS). 1, B6, B12, and E). 14_McClure_14.indd 541 11/14/2012 3:36:11 PM CHAPTER 14 Neurology 542 Guillain \200\223Barr syndrome G-BS is an acute, potentially fatal, demyelinating polyneu ropathy. It often follows an intercurrent infection, classically campylobacter enteritis. I nitially, there are motor signs that progress up the body. That is, \201 rst there is gai t disturbance, which then progresses to involvement of the arms, and then respiratory and b ulbar involvement in severe cases. Children may com- plain of muscle pain, which can mask t he weakness. Sensory involvement also occurs, but this feature may be overlooked. Etiology \200 \200 \200 \200 \200 \200 EBV, cytomegalovirus. Measles, mumps. Enteroviruses. Mycoplasma pneumoniae Borrelia bur gdorferi Campylobacter . Diagnosis The differential diagnosis includes myasthenia gravis, polio, spinal cord compres sion/myelitis, and botulism. The main diagnostic features of G-BS are as follows. \200 Clinical fashion. Nerve Cerebrospinal Variants: involvement, ophthalmoplegia, ataxia, and a re \202 exia. The bladder should be spared. picture: muscle weakness, with loss of re \202 exes in an ascending \200 \200 conduction studies: demonstrate characteristic features. \202 uid: elevated protein, but this does not occur at onset. Miller \200\223Fisher variant includes bulbar cranial nerve Course \200 Onset: \200 Ascending \200 Plateau \200 Recovery: full recovery sometim es takes a number of months. The re \202 exes are the last to recover. starts 1 \200\2232wks after an antecedent illness. weakness: the initial deterioration, normally lasts <2wks. phase: symptoms are static, normally lasts for 1 \200\2232wks. should begin within 2 \200\2234wks, in a descending manner, though Management \200 Immediate vital capacity (FVC); see b p.49) and autonomic involvement. Dy sautonomia leads to tachycardia, \202 uctuating BP, and GI disturbance. Pain control. Fee ding/swallowing assessment. Early introduction of physiotherapy and occupational therapy to avoid joint contracture. Control of pain. Immunoglobulin: used initially, with plasmaphere sis reserved for refractory cases. Note risk of transmissible infection and allergic reacti ons to IVIG. admission for monitoring: of respiratory status (use forced \200 IV treatment (400mg/kg/day for 5 days) is normally 14_McClure_14.indd 542 11/14/2012 3:36:11 PM GUILLAIN \200\223BARR \211 SYNDROME 543 14_McClure_14.indd 543 11/14/2012 3:36:11 PM CHAPTER 14 Neurology 544 Neuromuscular junction Autoimmune myasthenia gravis The hallmark of this condition is \202 uctuating, fatiguable weakness. At onset 50% of patients have ptosis with, eventually, more than 80% developing it. The condition is caused by autoantibodies against the nicotin ic acetylcho- line (ACh) receptor, which blocks transmission at the neuromuscular junc- tio n. Normally, the condition is insidious, but sometimes an acute onset of \202 uctuating w eakness of the extra-ocular, facial, oropharyngeal, respiratory, and limb muscles may prese nt. Diagnosis \200 fatiguability of power/re \202 exes, particularly upward gaze Clinical picture: with eyeli ds/elevation, \202 uctuating weakness of the extra-ocular, facial, oropharyngeal, respira tory, and limb muscles. Electrophysiological assessment of the neuromuscular junction (NMJ) in affected muscles. Response to a trial of edrophonium: response may be brief. ACh-recept or antibodies are present in more than 50% of cases. video recording is essential as Management \200 Immediate assessment of respiratory status using bedside measurement of FVC. Immediate asse ssment of bulbar function looking at swallowing. First-line: Refractory Subsequent immunosu ppression, azathioprine, ciclosporin, methotrexate, and thymectomy. Needs to be monitored b y an expert. Outpatient management of NMJ and muscular disorders ( \200 \200 cholinesterase inhibitors such as pyridostigmine with steroids. cases: acute, severe cases may respond to plasmapheresis. b p.548). Congenital myasthenia gravis (CMG) These are mainly a group of autosomal recessive disorder s. However, can rarely be caused by passive transfer of maternal antibodies, which quite of ten have a predeliction for the fetal NMJ. Unlike the better known acquired version, they a re caused by congenital abnormalities in the release, receptors for or recycling of acetylc holine at the NMJ. Despite \200\230less publicity \200\231, they contribute a much greater part of neuromuscular practice as they are lifelong and cannot be cured completely, so req uire expert management. Presentation In some cases as neonates, with arthrogryposis +/ \200\223 bulbar/respiratory insuf \201 ciency +/ \200\223 facial weakness +/ \200\223 limb girdle weakness. One sympto m is particularly noteworthy \200\224laryngeal palsy, as this is a rare condition, and very likely to be caused by a CMG if there are no other ENT problems. 14_McClure_14.indd 544 11/14/2012 3:36:11 PM NEUROMUSCULAR JUNCTION 545 Diagnosis \200 Clinical picture, including examination of mother (passive transfer of maternal antibodies) . Electrophysiological assessment of the NMJ in affected muscles . Response to a trial of e drophonium: response may be brief. ACh-receptor antibodies are not normally present if the mother is unaffected. \200 video recording is essential as Management Outpatient management of NMJ and muscular disorders (b p.548). 14_McClure_14.indd 545 11/14/2012 3:36:11 PM CHAPTER 14 Neurology 546 Muscular disorders Muscular dystrophies Are a group of congenital disorders that are charac terized by dystrophic change on muscle biopsy. They can affect muscles in different pattern s and are characteristically associated with a raised creatine kinase enzyme. Duchenne musc ular dystrophy (DMD) See also b p.944. This condition classically presents within the \201 rst 4yrs with delayed motor milestones and mild speech delay. DMD is an X-linked reces sive condition that lies at the severe end of the spectrum of disorders and is due to a mol ecular abnormality of dystrophin. Examination \200 \200 \200 \200 Waddling lordotic gait. Calf hypertrophy. Weakness in limb Sparing of the facial, extra-ocu lar, and bulbar muscles. girdles (lower more than upper): Gower \200\231s sign. Investigation \200 \200 Markedly raised creatine kinase. Genetic analysis: this does not differentiate between the milder Becker muscular dystrophy (BMD) and more severe DMD, therefore expert interpretation is required. Outpatient management of NMJ and muscular disorders ( b p.548). Myotonic dystrophy See also b pp.136 \200\223137, 944. Autosomal dominant disorder with exp and- ed CTG trinucleotide repeats on chromosome 19 (and anticipation when transmitted from mother). \200 Congenital and are almost always of maternal inheritance. Infants present with hypotonia, f eeding dif \201 culty, tent-shaped mouth, and respiratory impairment. Treatment is support ive, but, notably, the symptoms become less disruptive as the child grows. Later onset form : children present with hypotonia, myopathic face, and global developmental delay. Later co mplications include diabetes mellitus, cataracts, and cardiac involvement. The diagnosis wi ll initially be made by the characteristic clinical picture. form: severe cases may present in the neonatal period Diagnosis Con \201 rmation can be made on examination of both parents and DNA analysis. EM G demonstrates the characteristic myotonic discharges, but is not needed for diagnosis. Management See Management of neuromuscular junction and muscular disorders, b p.548. (cid:1) Caution There is a particular risk of malignant hyperthermia during general anesthe sia. 14_McClure_14.indd 546 11/14/2012 3:36:11 PM MUSCULAR DISORDERS 547 Congenital myopathies See also b pp.136 \200\223137. These are a group of mainly autosomal recessive disorders characterized by: \200 \200 \200 muscle weakness; hypotonia; variable involvement of the facial, bulbar, and extra-ocular mu scles. The congenital myopathies can be associated with arthrogryposis and if present in the neona te, may improve with good management for the \201 rst years. Diagnosis \200 \200 \200 \200 Clinical picture. EMG and nerve conduction studies. DNA analysis. Muscle biopsy is used whe n the commoner disorders (myotonic dystrophy, DMD, and spinal muscular atrophy) have been e xcluded. Management (see b p.548) 14_McClure_14.indd 547 11/14/2012 3:36:11 PM CHAPTER 14 Neurology 548 Management of neuromuscular junction and muscular disorders These disorders are rare, sever e and complicated. They need to be man- aged by a good local service with on going advice f rom a specialist center. Key components of care include: \200 Assessment for power, joint ranges, and contractures. With appropriate advice from physio- and occupational therapists. Access to speech therapy and dietary assessment. Consideration on appropriate management of respiratory, cardiac and other systems \200\231 complications . Liaison with allied services, particularly education/social services. Genetic counseling for the child and other family members. Psychological support for the child and family. \200 \200 \200 It should be noted that, although a specialist center will need to be involved, they will f ail, if they do not liaise and empower a good local service, and the child/family, with the above key parts. Their advice on the projected trajectory and likely complications for the speci \201 c disorder should inform the exact local management plan. (cid:1) Caution There is a particular risk of malignant hyperthermia during general anesthe sia for most neuromuscular disorders, so make sure child, parents and all relevant professi onals are alerted, particularly fam- ily practitioners. 14_McClure_14.indd 548 11/14/2012 3:36:11 PM NEUROMUSCULAR JUNCTION AND MUSCULAR DISORDERS 549 14_McClure_14.indd 549 11/14/2012 3:36:11 PM CHAPTER 14 Neurology 550 Cerebral palsy \200 De \201 nition: early (i.e. before the age of 2yrs) and continues throughout life. Causati on: CP is caused by static injury to the developing brain. Associations: children with CP a re at increased risk of impairments including vision, hearing, speech, learning, epilepsy, nutrition, and psychiatric. Clinical pure components of spasticitiy, choreoathatosis, or ve ry rarely ataxia. a chronic disorder of movement and/or posture that presents \200 forms: most children will have a mixed disorder, but some can have Spastic CP This is the commonest label and children can be hemiplegic, diplegic, or quadrip legic. Monoplegic cerebral palsy is extremely rare, and normal- ly a misdiagnosis as the cl inician has not examined the arm effectively. Spasticity is a stretch-related response char acterized by a velocity-depen- dent, increased resistance to passive stretch. It is caused by disruption to the spinal re \202 ex arc by the upper motor neuron. It will affect all t he skeletal muscles and causes the following: \200 \200 Increased tone and re \202 exes. Clasp knife phenomenon on rapidly stretching tendons ofte n described as a \200\230catch \200\231. Leg: Hip: Wrist: Elbow: Shoulder: Bulbar muscles may be spastic giving dysphagia and dribbling. \200 \200 \200 \200 \200 ankle plantar \202 exion, and either valgus or varus deformity of foot. \202 exion, lim ited adduction, and often internal rotation. \202 exed and pronated. \202 exed. adducted. Choreoathetosis Condition presents as a 4-limb disorder with greatly increased tone while a wake and less so during the early stages of sleep. These patients do not have the stretch-r elated response and increased re \202 exes of pure spastic CP. However, there may be combi nations of these features in mixed CP. As the child matures they will often develop \201 xed reduction in joint range of movement and then the signs will be more dif \201 cult to distinguish from those of spastic CP. They almost always have bulbar problems. Ataxic cerebral palsy This form of CP is extremely rare and poorly understood. It is also k nown as the disequilibrium syndrome. Children have a congenital ataxia giving them a striki ng loss of balance in the early years (i.e. disequilibrium). They often have a mild diplegi a and are thought to be aetiologically distinct from the other types of CP, where hypoxia a nd ischaemia are thought to be causal factors. It may be that congenital ataxia is a better than applying cerebral palsy \200\224see Investigation of CP. Investigation of CP \200 \200 CP is a descriptive term of disability and not the cause. The key factor is a static neurol ogical insult. 14_McClure_14.indd 550 11/14/2012 3:36:11 PM CEREBRAL PALSY 551 May well be given in the history. Beware associations being used to explain CP; factors suc h as prematurity may lead to complications, but the child needs a comprehensive assessment to exclude other disorders \200\224esp. progressive ones. All children need investigation. History: prematurity and periods of hypoxic ischaemia. Imaging: tracts in children with spa sticity and the basal ganglia in others (Fig. 14.8). If there is a problem in the history, e.g. hypoxic ischaemic encephalopathy, then there should be signs of this on the imaging. W here imaging does not con \201 rm a static insult, seek expert opinion. the cause may be evident from a good history, in particular for MRI scan of the brain, with particular reference to the pyramidal Fig. 14.8 T2-weighted axial images of bilateral periventricular leucomalacia. Management of CP \200 Complex multidisciplinary input.: the primary therapists are the child \200\231s carers as they will provide at least 90% of the therapy to the child. In the early years, experts in speech, physiotherapy, and occupational therapy will support this treatment. Posture ranges , muscle length and power. Treatments and support include stretching exercises, orthoses (e .g. ankle foot orthosis), wheelchair for mobility, sleeping and standing systems, and botul inum toxin (Botox) to the gastrocnemius. Surgery is used as a last resort. Communication: w ith speech therapy and aids. Independence with a tailored educational program, aids under s upervision from occupational therapy. Cognition General behavioral or psychiatric disturban ce. and movement: optimize function by improving symmetry, joint \200 \200 and learning support: with a tailored educational program. medical: watch for seizures, con stipation, malnutrition, and Note: Dopamine-responsive dystonia will very rarely present with an unexplained diplegia an d normal MRI. All these children will need a trial of co-careldopa with a gradually increas ing dose of up to 10mg/kg/day of the dopa component over 3mths. If there is not a signi \201 cant improve- ment then the child is unlikely to be dopa-sensitive. 14_McClure_14.indd 551 11/14/2012 3:36:12 PM CHAPTER 14 Neurology 552 Acute encephalopathy (See also b pp.72 \200\22379.) Encephalopathy is de \201 ned as a deg eneration of brain function, due to different causes. However, in practical terms it is tho ught to denote a process with impaired cognition, focal neurological signs. It normally is matched by a typical EEG trace: with an abundance of slow waves. There is reduced consci ousness as assessed by the GCS \200\224b p.76. Note: The difference between encephalopathy and encephalitis \200\224the latter being encep halopathy s to an infective process \200\224mainly viral. It is thought that CSF with norma l WCC excludes encephalitis. Assessment The cause will be apparent within the history in the majority of cases, e.g. men ingitis, trauma, or HIE. Consider/ask about potential causes: \200 \200 \200 \200 \200 \200 \200 \200 \200 viruses as well as bacterial, e.g. meningitis. including mitochondrial dysfunction, check f or consanguinity. Infections: Metabolic: Autoimmune: Increased ICP: Lack of Trauma. Toxins (inc. solvents, dr ugs, Radiation. Nutrition. e.g. ADEM, thyroiditis. e.g. tumors obstructing CSF. oxygen or blood \202 ow: hypoxia-isc haemia. alcohol, and metals). If not, or to con \201 rm then perform a full neurological examination \200\224with partic ular reference to assessment of the conscious state and place on the GCS, eye movement, fun di, bulbar control (can the child manage secre- tions?), upper motor neuron signs in limbs. Also check for other system involvement \200\224skin, immune, and viscerae. Management These children are very sick, and at risk of cardiorespiratory compromise, until a diagnosis has been made, and they have a secure plan to manage the encephalopathy. Manag ement should be performed simultaneously to investigation. 14_McClure_14.indd 552 11/14/2012 3:36:12 PM ACUTE ENCEPHALOPATHY 553 Is the GCS<8? If so proceed to intubation/ventilation, keep the CO2 be- tween 4 and 5kpa. \200 Treat shock if present. If not, then IV \202 uids at 60% of normal daily volume requireme nts. Early consideration for NG feeding, if too unwell too feed orally. Unless there is a c onformed non-infective diagnosis, treat as if meningitis (b pp.78 \200\22379, 720 \200\2237 21). Also treat with acyclovir (b p.79) for Herpes, and oral clarithromycin for mycoplasma pneumoniae. Check, full blood count, CRP, ESR, glucose and renal/liver function. If cause u nclear, check serum ammonia, lactate, acylcarnitine pro \201 le, urine organic acid pro \201 le and store for further assessment as needed, e.g. toxicology. Only when stable prote in, lactate and stored sample for subsequent viral analysis/ immunology as needed. Neuroima ging is essential, but should only be performed once the child is stable. Always give enhan cement, if possible scan the spine as well, and get MRI rather than CT, although the latter is better than nothing. , perform LP make sure there is a full WCC, glucose, Further therapy will depend on the case, and should only happen within a center with a pedi atric neurology service and the intensive care unit. 14_McClure_14.indd 553 11/14/2012 3:36:12 PM This page intentionally left blank 555 Chapter 15 Child development Managing and living with disability 556 Normal development 557 Gross motor development 558 Fine motor development 559 Speech and language development 560 Social, emotional, and behav ioral development 561 Developmental assessment 562 Neurodevelopmental delay 564 Learning di f \201 culties/disabilities 566 Developmental co-ordination disorder 566 Communication dif \201 culties 566 15_McClure_15.indd 555 11/14/2012 3:37:33 PM CHAPTER 15 Child development 556 Managing and living with disability A diagnosis of a child with disability is invariably de vastating for the family concerned. Parents will react in different ways and their needs an d sup- port will vary. Health professionals should provide clear, practical informa- tion a nd should be open, realistic, and honest in their approach. It is vital not to withhold inf ormation. A multidisciplinary team that comprises specialist pediatricians, physi- otherapists, occup ational therapists, language therapists, and specialist nurses (e.g. community pediatric, e pilepsy, learning disability) should be involved in the co-ordination and provision of care for the child with dis- ability and their family. There should also be close liaison with social care and education. A key worker should take responsibility for co-ordinating appoin tments and information. Many aspects of a child \200\231s disability will change with time and their ongo- ing and long-term needs will require regular reevaluation. \200 \200 \200 \200 \200 Mobility problems. Hearing and vision dif \201 culties. Communication dif \201 culties Se lf-care and continence issues. Educational provision: educational needs. Feeding dif \201 culties. Sleeping dif \201 culties. Behavior problems. special schooling; statements of special \200 \200 Social considerations These are just as important as the medical needs and social care.is o ften able to provide support and advice for the family. A child with a disability is a \200\230child in need \200\231 according to the Children Act and therefore is entitled to a n assessment, which can include \200 \200 Provision of temporary respite care for parents. Provision of suitable accommodation, e.g. wheel chair access; bathroom access. Financial support, e.g. disability living allowances. Transition of care to adult services must be carefully planned and co- ordinated. 15_McClure_15.indd 556 11/14/2012 3:37:33 PM NORMAL DEVELOPMENT 557 Normal development Early child development is best divided into four functional areas: \200 \200 \200 \200 b p.558); b p.559); gross motor ( \201 ne motor ( speech (language and hearing) ( social (emotional and behav ioral) ( b p.560); b p.561). Cognitive development refers to higher intellectual function and develops as the child gets older. Development is the result of a combination of hereditary and environmental factors. The environment must meet the child \200\231s physical and psychological needs. Developmen tal progress is about the acquisition of functional skills. There is remarkable consistency in the pattern of skills acquisition, although there is a wide normal range. 15_McClure_15.indd 557 11/14/2012 3:37:33 PM CHAPTER 15 Child development 558 Gross motor development Key motor developmental milestones Head control \200 Newborn: sus pension. 6wks: 3mths: head lag on pulling to sit; head extension in ventral \200 lifts head on lying prone and moves it from side to side. infant holds head upright when he ld sitting. Primitive re \202 exes \200\230Primitive \200\231 re \202 exes are found in normally dev eloping infants that disappear by 4 \200\2236mths (Box 15.1). Box 15.1 Primitive re \202 exes \200 Moro re \202 ex: limbs followed by \202 exion Grasp re \202 ex: Rooting re \202 ex: St epping re \202 ex: is placed on it, followed by an up step by the other foot Asymmetric ne ck re \202 ex: posture \200\231 is adopted: outstretched arm on the side the head is turne d sudden head extension causes symmetrical extension of \200 \200 \201 ngers/toes grasp an object placed on the palm/sole head turns to tactile stimulus placed near the mouth infant held vertically, will step on a surface when foot lying supine, if head turned, a \200\230fencing Sitting By 6 \200\2238mths an infant usually can sit without support. To achieve this, the baby must have developed two re \202 exes: \200 \200 Propping or parachute re \202 ex in response to falling. Righting re \202 ex to position head and body back to the vertical on tilting. Children not sitting by 9mths should be referred for evaluation Locomotor skills An infant initially becomes mobile, usually by crawling, but some will bot - tom shuf \202 e and others will commando crawl (creep). \200 \200 By By 12mths range for this is broad. 10mths infants are usually cruising round the edge of furniture. 50% of infants are walking independently; however, the age Children not walking by 18mths must be referred for evaluation Further development of motor skills Children learn to run and jump and by 24mths they start to kick a ball \200 Age 3yrs: pedal a tricycle. Age 4yrs: stairs one leg at a time, and pedal a bicycle with st abilizers. Age can jump from a bottom step, stand on one leg brie \202 y, and can balance on one leg for a few seconds, go up and down 5yrs: can skip on both feet. 15_McClure_15.indd 558 11/14/2012 3:37:33 PM FINE MOTOR DEVELOPMENT 559 Fine motor development Fine motor development and vision Fine motor skills are dependent on good vision. Therefore \201 ne motor skills are usually assessed alongside visual develo pment. Early visual alertness A \200 newborn infant will \201 x and follow a near face or light moving across the \201 eld of view. By follow an object. By (i.e. hand regard). 6wks infant is more alert and will turn the head through 90 to 3 \200\2234mths a baby will spend a lot of time watching their hands Note: Some infants may demonstrate an intermittent squint. Fixed squints and all those pers isting beyond the 8-week check must be referred to an ophthalmologist (see b Chapter 24 pp. 908 \200\223910). Early \201 ne motor skills As the primitive grasp re \202 ex starts to decrease infants will start to reach for objects. \200 6mths: grip is usually with the whole palm (palmar grasp); holds objects with both hands and will bang them together; transfers objects betwee n hands. 10mths infant is developing a pincer grip using thumb and \201 rst At \200 \200 \200 By \201 nger. By 12mths infant will use index \201 nger to point to objects. Preschool \201 ne motor development Fine motor skills can be assessed with pencil control and with building bricks (Table 15.1). Table 15.1 Fine motor skill developmental milestones Age Pencil skills Brick building 18mths Scribbles 2yrs Builds 6-brick tower 2.5yrs Copies a circle Builds 8-brick tower or train with 4 carriages 3yrs Draws a circle Copies/makes bridge 4yrs Draws a cross Copies/makes steps 4.5yrs Draws a square 5yrs Draws a triangle 15_McClure_15.indd 559 11/14/2012 3:37:33 PM CHAPTER 15 Child development 560 Speech and language development Speech is assessed in conjunction with hearing (b p.896). I mpaired hear- ing will affect language development. Age of acquisition of language is very varied. Early signs of normal hearing and vocalization \200 \200 \200 Newborn By By \200 \200 will quieten to voices and startle to loud noises. 6wks: responds to mother \200\231s voice. 12wks: will vocalize alone or when spoken to; beg ins to coo and laugh. Early language development \200 \200 At 6mths By 8mths \200\230dada \200\231. By 13mths understanding of other single words (e. g. \200\230drink \200\231 or \200\230no \200\231). By 18mths: \200 \200 will use consonant monosyllables, e.g. \200\230ba \200\231 or \200\230da \200\231. will u se non-speci \201 c two-syllable babble, e.g. \200\230mama \200\231 or two-syllable words become appropriate and develops vocabulary of 10 words; demonstrate 6 parts of the body. Phrase and conversation development Conversation becomes increasingly complex with sentence development in the 2nd year. \200 By24mths phrases by the age of 2yrs (e.g. \200\230Giv e me toy \200\231 or \200\230get me drink \200\231). By 3yrs begin to combine 2 words together progressing to 3-words knows age, name and several colors. 15_McClure_15.indd 560 11/14/2012 3:37:33 PM SOCIAL, EMOTIONAL, AND behavioral DEVELOPMENT 561 Social, emotional, and behavioral development Early social development \200 At \200 \200 At 10mths an increased wariness of strangers. By 10mths 6wks: starts smiling; becomes increasingly responsive socially. shows separation anxiety when separated from parent and begins to wave \200\230good-bye \200\231. Social and self-help skills development \200 \200 \200 \200 At 8mths At 12mths At 18mths By 2yrs begins to start to feed self using \201 ngers. will drink from a cup. uses spoon to feed self. removes some clothes and will soon start to try to dress self. Bladder and bowel training Very variable. Some children are potty trained by 2yrs, but others can be much older when t hey develop this behavior. Night-time dryness always takes longer. 10% of 5-year-olds still wet the bed at night. Symbolic play \200 By 24mths children start to copy actions and activities that they see around them (e.g. feeding a doll, making tea, dusting, and cleaning). They progress in the 2nd year to play on their own or alongside peers in parallel play. From 3yrs simple rules. they start to have interactive play, taking turns and following Cognitive function Cognition refers to higher mental function. \200 Pre-school \200 children: thought processes are called pre-operational; children are at the center of their world; \200\230magical \200\231 thinking and play with toys as if they were alive. Junior are more practical and orderly. Teenage abstract thought and complex reasoning. school age: thoughts become operational and thought processes years: formal operational thought has developed including 15_McClure_15.indd 561 11/14/2012 3:37:33 PM CHAPTER 15 Child development 562 Developmental assessment The Denver Developmental Screening test (Box 15.2) is used as a re lative- ly quick test of children \200\231s abilities and as an assessment of whether they have achieved their age-appropriate developmental milestones (Fig. 15.1). Box 15.2 How to use the Denver Developmental Screening test \200 \200 A vertical line is drawn at the child \200\231s chronological age If premature, subtract th e month chronological age (up until the age of 2yrs) s of prematurity from the Developmental assessment should always consider developmental prog- ress over time within e ach area of skill. The pattern and rate of attainment of developmental milestones may also vary. 15_McClure_15.indd 562 11/14/2012 3:37:34 PM DEVELOPMENTAL ASSESSMENT 563 Percent of children passing PR = Prone SIT = Sitting 25 50 75 90 TEST ITEM Months 1 2 3 4 5 6 7 8 9 10 11 12 13 14 16 PR LIFTS HEAD 1 BEAR SOME WEIGHT ON LEGS STANDS MOMENTARILY 2 PULL TO SIT NO HEAD LAG PRE HEAD UP 45 WALKS HOLDING ON FURNITURE PR HEAD UP 90 PULL TO SIT NO HEAD LAG STANDS ALONE WELL PR CHEST UP ARM SUPPORT STOOPS & RECOVERS STANDS HOLDING ON SIT HEAD STEADY WALKS WELL PULLS SELF TO STAND Gross Motor GETS TO SITTING ROLLS OVER 9 10 11 FOLLOWS TO MIDLINE GRASPS RATTLE SIT, LOOKS FOR YARN REGARDS RAISIN SIT, TAKES 2 CUBES SYMMETRICAL MOVEMENTS 9 FOLLOWS PAST MIDLINE REACHES FOR OBJECT BANGS 2 CUBES HELD IN HANDS 13 9 FOLLOWS 180 TAKES RAISIN ATTAINS NEAT PINCER GRASP OF RAISIN 12 HANDS TOGETHER THUMBS, FINGER GRASP Fine Motor-adaptive TRANSFERS CUBE HAND TO HAND RESPONDS TO BELL DADA OR MAMA NONSPECIFIC VOLCALIZES NOT CRYING TURNS TO VOICE DADA OR MAMA SPECIFIC LAUGHS SQUEALS 12 IMITATES SPEECH SOUNDS Language REGARDS FACE SMILES RESPONSIVELY INITIALLY SHY WITH STRANGERS 26 PLAYS PAT A CAKE SMILES SPONTANEOUSLY PLAYS BALL WITH EXAMINER INDICATES WANTS (NOT CRY) FEEDS SELF CRACKER 27 RESISTS TOY PULL 50% 90% pass at 1 month DRINK FROM CUP PLAYS PEEK-A-BOO WORKS FOR TOY OUT OF REACH Personal \200\223social 1 2 3 4 5 6 7 8 9 10 11 12 13 14 16 Months Fig. 15.1 Denver developmental screening. 15_McClure_15.indd 563 11/14/2012 3:37:34 PM CHAPTER 15 Child development 564