• Ask the parent what their child can and cannot do. Start at a level below what a child is likely to be able to do to retain confidence of the parent and child.

• Observe the child from the first moment seen.

• Make it fun. Your examination should be perceived as a game by the child, although they may not always follow your rules.

• Toys to use are cubes, a ball, car, doll, pencil, paper, pegboard, miniature toys, picture book. Adapt their use to the child.

• Formulate a developmental picture in terms of gross motor; vision and fine motor; hearing, speech and language; and social, emotional and behaviour. As you become more confident you will screen all these skills simultaneously.

• At the end of developmental screening you should be able to describe what a child is able to do and what the child cannot do, if the abilities are within normal limits for age and, if not, which developmental fields are outside the normal range.

• Clinical signs to look for that may aid diagnosis or guide investigation are:

Abnormal development – key concepts

The terminology can be confusing, but:

The following are agreed definitions:

The term ‘handicap’ is now discouraged as it can imply a person deserves pity. Difficulty and disability are often used interchangeably, but difficulty is used particularly in an educational context.

The pattern of abnormal development (global or specific) can be categorised as (Fig. 4.1):

The severity can be categorised as:

Other features of developmental delay are:

• The gap between normal and abnormal development becomes greater with increasing age and therefore becomes more apparent over time (Fig. 4.2).

• It may be the presentation of a wide variety of underlying conditions (Table 4.2).

• The site and severity of brain damage influences the clinical outcome, i.e. whether there will be specific or global developmental delay, learning and/or physical disability.

• It may be genetic, with important implications for the family.

• There is a wide age band across which it can be normal to achieve a developmental skill. Limit ages denote beyond the normal range.

The choice of investigations to identify the cause is influenced by the child’s age, the history and clinical findings (Table 4.3). In some children, no cause can be identified even after extensive investigation.

Developmental delay

Global developmental delay (also called early developmental impairment) implies delay in acquisition of all skill fields (gross motor, vision and fine motor, hearing and speech, and language and cognition, social/emotional and behaviour). It usually becomes apparent in the first 2 years of life. Global developmental delay is likely to be associated with cognitive difficulties, although these may only become apparent several years later. The presence of global developmental delay should always generate investigation into a possible cause such as those listed in Table 4.2. When children become older and the clinical picture is clearer, it is more appropriate to describe the individual difficulties such as learning disability, motor disorder and communication difficulty, rather than using the term global developmental delay.

Specific developmental impairment is when one field of development or skill area is more delayed than others. It may also be developing in a disordered way.

Abnormal motor development

This may present as delay in acquisition of motor skills, e.g. head control, rolling, sitting, standing, walking or as problems with balance, an abnormal gait, asymmetry of hand use, involuntary movements or rarely loss of motor skills. Concern about motor development usually presents between 3 months and 2 years of age when acquisition of motor skills is occurring most rapidly. Examination may reveal underlying abnormal motor signs.

Causes of abnormal motor development include:

As hand dominance is not acquired until 1–2 years or later, asymmetry of motor skills during the first year of life is always abnormal and may suggest an underlying hemiplegia.

Late walking (>18 months old) may be caused by any of the above but also needs to be differentiated from children who display the normal locomotor variants of bottom-shuffling or commando crawling (see Ch. 3), where walking occurs later than with crawlers.

Concern about abnormal motor development needs assessment by a neurodevelopmental paediatrician and physiotherapist. Ongoing physiotherapy input and subsequent involvement of an occupational therapist is likely to be needed.

Cerebral palsy (CP)

Cerebral palsy may be defined as an abnormality of movement and posture, causing activity limitation attributed to non-progressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of CP are often accompanied by disturbances of cognition, communication, perception, sensation, behaviour and seizure disorder and secondary musculoskeletal problems. Although the lesion is non-progressive, the clinical manifestations emerge over time, reflecting the balance between normal and abnormal cerebral maturation. Cerebral palsy is the most common cause of motor impairment in children, affecting about 2 per 1000 live births. The term is usually used for brain injuries occurring up to the age of 2 years. After this age, it is more appropriate to use acquired brain injury as the diagnosis. Although the underlying cause is static, the resulting motor disorder may evolve, giving the impression of deterioration. The diagnosis for each child should formulate: the distribution of the motor disorder, the movement type, the cause and any associated impairment.

Causes

About 80% of cerebral palsy is antenatal in origin due to vascular occlusion, cortical migration disorders or structural maldevelopment of the brain during gestation. Some of these problems are linked to gene deletions. Other antenatal causes are genetic syndromes and congenital infection.

Only about 10% of cases are thought to be due to hypoxic-ischaemic injury during delivery and this proportion has remained relatively constant over the last decade. About 10% are postnatal in origin.

Preterm infants are especially vulnerable to brain damage from periventricular leucomalacia (PVL) secondary to ischaemia and/or severe intraventricular haemorrhage. The rise in survival of extremely preterm infants has been accompanied by an increase in survivors with cerebral palsy, although the number of such children is relatively small.

Postnatal causes are meningitis/encephalitis/encephalopathy, head trauma from accidental or non-accidental injury, symptomatic hypoglycaemia, hydrocephalus and hyperbilirubinaemia.

MRI brain scans may assist in identifying the cause of the cerebral palsy but a scan is not necessary to make the diagnosis.

Clinical presentation

Many children who develop cerebral palsy will have been identified as being at risk in the neonatal period. Early features of cerebral palsy are as follows:

• Abnormal limb and/or trunk posture and tone in infancy with delayed motor milestones (Fig. 4.3); may be accompanied by slowing of head growth

• Feeding difficulties, with oromotor incoordination, slow feeding, gagging and vomiting

• Abnormal gait once walking is achieved

• Asymmetric hand function before 12 months of age.

In CP, primitive reflexes, which facilitate the emergence of normal patterns of movement and which need to disappear for motor development to progress, may persist and become obligatory (see Ch. 3).

The diagnosis is made by clinical examination, with particular attention to assessment of posture and the pattern of tone in the limbs and trunk, hand function and gait. There are three main clinical subtypes: spastic (90%), dyskinetic (6%) and ataxic (4%). A mixed pattern may occur. Functional ability is described using the Gross Motor Function Classification System (Table 4.4).

Table 4.4

Gross Motor Function Classification System (GMFCS)

Level I	Walks without limitations
Level II	Walks with limitations
Level III	Walks using a handheld mobility device
Level IV	Self-mobility with limitations; may use powered mobility
Level V	Transported in a manual wheelchair

See http://www.canchild.ca/en/measures/gmfcs.asp for further details (accessed January 2011).

Spastic cerebral palsy

In this type, there is damage to the upper motor neurone (pyramidal or corticospinal tract) pathway. Limb tone is persistently increased (spasticity) with associated brisk deep tendon reflexes and extensor plantar responses. The tone in spasticity is velocity dependent, so the faster the muscle is stretched the greater the resistance it will have. This elicits a dynamic catch which is the hallmark of spasticity. The increased limb tone may suddenly yield under pressure in a ‘clasp knife’ fashion. Limb involvement is increasingly described as unilateral or bilateral to acknowledge asymmetrical signs. Spasticity tends to present early and may even be seen in the neonatal period. Sometimes there is initial hypotonia, particularly of the head and trunk. There are three main types of spastic cerebral palsy:

• Hemiplegia – unilateral involvement of the arm and leg (Fig. 4.4). The arm is usually affected more than the leg, with the face spared. Affected children often present at 4–12 months of age with fisting of the affected hand, a flexed arm, a pronated forearm, asymmetric reaching or hand function. Subsequently a tiptoe walk (toe–heel gait) on the affected side may become evident. Affected limbs may initially be flaccid and hypotonic, but increased tone soon emerges as the predominant sign. The past medical history may be normal, with an unremarkable birth history with no evidence of hypoxic-ischaemic encephalopathy. In some, the condition is caused by neonatal stroke. Larger brain lesions (strokes) may cause a hemianopia (loss of half of visual field) of the same side as the affected limbs

• Quadriplegia – all four limbs are affected, often severely. The trunk is involved with a tendency to opisothonus (extensor posturing), poor head control and low central tone (Fig. 4.5). This more severe cerebral palsy is often associated with seizures, microcephaly and moderate or severe intellectual impairment. There may have been a history of perinatal hypoxic-ischaemic encephalopathy.

• Diplegia – all four limbs, but the legs are affected to a much greater degree than the arms, so that hand function may appear to be relatively normal. Motor difficulties in the arms are most apparent with functional use of the hands. Walking is abnormal. Diplegia is one of the patterns associated with preterm birth due to periventricular brain damage.

Cerebral palsy

Dyskinetic cerebral palsy

Dyskinesia refers to movements which are involuntary, uncontrolled, occasionally stereotyped, and often more evident with active movement or stress. Muscle tone is variable and primitive motor reflex patterns predominate. May be described as:

• Chorea – irregular, sudden and brief non-repetitive movements

• Athetosis – slow writhing movements occurring more distally such as fanning of the fingers

• Dystonia – simultaneous contraction of agonist and antagonist muscles of the trunk and proximal muscles often giving a twisting appearance.

Intellect may be relatively unimpaired. Affected children often present with floppiness, poor trunk control and delayed motor development in infancy. Abnormal movements may only appear towards the end of the first year of life. The signs are due to damage or dysfunction in the basal ganglia or their associated pathways (extrapyramidal). In the past the commonest cause was hyperbilirubinaemia (kernicterus) due to rhesus disease of the newborn but it is now hypoxic-ischaemic encephalopathy at term.

Ataxic (hypotonic) cerebral palsy

Most are genetically determined. When due to acquired brain injury (cerebellum or its connections), the signs occur on the same side as the lesion but are usually relatively symmetrical. There is early trunk and limb hypotonia, poor balance and delayed motor development. Incoordinate movements, intention tremor and an ataxic gait may be evident later.

Summary

Cerebral palsy

• has many causes. Only about 10% follow hypoxic-ischaemic encephalopathy

• usually presents in infancy with abnormal tone and posture, delayed motor milestones and feeding difficulties

• may be spastic, dyskinetic, ataxic or a mixed pattern.

Management

Parents should be given details of the diagnosis as early as possible, but prognosis is difficult during infancy until the severity and pattern of evolving signs and the child’s developmental progress have become clearer over several months or years of life. Children with cerebral palsy are likely to have a wide range of associated medical, psychological and social problems, making it essential to adopt a multidisciplinary approach to assessment and management, as described later in this chapter.

Abnormal speech and language development

A child may have a deficit in either receptive or expressive speech and language, or both. The deficit may be a delay or a disorder.

Speech and language delay may be due to:

Speech and language disorders include disorders of:

Speech and language problems are usually first suspected by parents or primary healthcare professionals. A hearing test and assessment by a speech and language therapist are the initial steps. In early years, there is considerable overlap between language and cognitive (intellectual) development. Involvement of a neurodevelopmental paediatrician and paediatric audiological physician is indicated. Speech and language therapy may be provided on a continuous, burst or review basis. The speech therapist may promote alternative methods of communication such as signing (with Makaton or the Picture Exchange Communication System, PECS). Special schooling (usually language units attached to a mainstream primary school) are available but only appropriate for a very few. Many children with early speech and language problems will need learning support at school entry.

There are many tests of language development. These include:

Abnormal development of social/communication skills (autistic spectrum disorders)

Children who fail to acquire normal social and communication skills may have an autistic spectrum disorder. The prevalence of autistic spectrum disorder is 3–6/1000 live births. It is more common in boys. Presentation is usually between 2 and 4 years of age when language and social skills normally rapidly expand. The child presents with a triad of difficulties and associated co-morbidities (Box 4.1).

Where only some of the behaviours are present, the child may be described as having autistic features but not the full spectrum.

Asperger syndrome refers to a child with the social impairments of an autistic spectrum disorder but at the milder end, and near-normal speech development. Such children still have major difficulties with the give-and-take of ordinary social encounters, a stilted way of speaking and narrow, strange interests which they do not share with others, and are often clumsy. In reality autistic spectrum disorders are a continuum of behavioural states ranging from the severe form of autism with or without severe learning difficulties to the milder Asperger syndrome, to autistic features occurring secondary to other clinical problems. Autism is diagnosed by observation of behaviour, including the use of formal standardised tests. It may arise as the result of different organic processes but in many cases no specific cause can be identified. There is probably multiple aetiology with a genetic component in at least some. The condition is not the result of emotional trauma or deviant parenting. There is no evidence for a suggested link with the MMR vaccine.

Slow acquisition of cognitive skills/general learning difficulty

The term ‘learning difficulty or disability’ (reflecting cognitive learning difficulties) is now preferred to ‘mental retardation’ or ‘mental handicap’. Medical and educational classification of Intelligence Quotients can be different, with medical models having lower ranges. The educational levels below are useful for general use.

Children with borderline and mild (IQ 70–80) learning difficulties are usually supported by additional helpers (learning support assistants, LSAs) in mainstream schools, whereas children with moderate (IQ 50–70), severe (IQ 35–50) and profound (IQ < 35) learning difficulties are likely to need the resources of special schools.

Severe or profound learning difficulties are usually apparent from infancy as marked global developmental delay, whereas moderate learning difficulties emerge only as delay in speech and language becomes apparent. Mild learning difficulties may only become apparent when the child starts school or much later.

A child with profound learning difficulties will have no significant language and be completely dependent for all of his needs. A child with severe learning difficulties is likely to be able to learn minimal self-care skills and acquire simple speech and language. Both will need high or total supervision and support throughout life.

The prevalence of severe learning difficulty is about 3–4 per 1000 children. Most have an organic cause irrespective of social class, in contrast to moderate learning difficulty (30 per 1000 children) in which children of parents from lower socioeconomic classes are over-represented.

Common causes of developmental delay and learning difficulty are listed in Table 4.3.

Specific learning difficulty

Specific learning difficulty implies the skill described is more delayed than would be expected for the child’s level of cognitive ability.

Hearing impairment

Any concern about hearing impairment should be taken seriously. Any child with delayed language or speech, learning difficulties or behavioural problems should have their hearing tested, as a mild hearing loss may be the underlying cause without parents or other carers realising it. Hearing loss may be:

The causes, natural history and management of hearing loss are listed in Table 4.5. Hearing tests are described in Chapter 3. The typical audiogram in sensorineural and conductive hearing loss is shown in Figure 4.6.

Sensorineural hearing loss

This type of hearing loss is uncommon (1 in 1000 of all live births; 1 in 100 in extremely low birthweight infants). It is usually present at birth or develops in the first few months of life. It is irreversible and can be of any severity, including profound.

The child with severe bilateral sensorineural hearing impairment will need early amplification with hearing aids for optimal speech and language development. Hearing aid use requires close supervision, beginning in the home together with the parents and continuing into school. Children often resist wearing hearing aids because background noise can be amplified unpleasantly. Cochlear implants may be required where hearing aids give insufficient amplification (Fig. 4.7).

Many children with moderate hearing impairment can be educated within the mainstream school system or in partial hearing units attached to mainstream schools. Children with hearing impairment should be placed in the front of the classroom so that they can readily see the teacher. Gesture, visual context and lip movement will also allow children to develop language concepts. Speech may be delayed, but with appropriate therapy can be of good quality. Modified and simplified signing such as Makaton can be helpful for children who are both hearing-impaired and learning-disabled. Specialist teaching and support in preschool and school years is provided by peripatetic teachers for children with hearing impairment. Those with profound hearing impairment may need to attend a school for children who are deaf.

Abnormalities of vision

Normal visual development and tests of vision are described in Chapter 3.

Visual impairment may present in infancy with:

Squint (strabismus)

In this common condition there is misalignment of the visual axes. The history may be helpful as squints are often intermittent. The parents are usually correct if they report deviation of the eyes. There may be a history of squint in the family. Newborn babies usually have transient misalignments up to 3 months of age. In some infants and young children, marked epicanthic folds may give an appearance of a squint. Any infant with a squint should have red reflexes checked and those persisting beyond 3 months of age should be referred for a specialist ophthalmological opinion. A squint is usually caused by failure to develop binocular vision due to refractive errors, but cataracts, retinoblastoma and other intraocular causes must be excluded.

Squints are commonly divided into:

• Concomitant (non-paralytic, common) – usually due to a refractive error in one or both eyes, which is often treated by correction with glasses but may require surgery. These squints are particularly common in children with neurodevelopmental delay. The squinting eye most often turns inwards (convergent), but there can be outward (divergent) or, rarely, vertical deviation.

• Paralytic (rare) – varies with gaze direction due to paralysis of the motor nerves. This can be sinister because of the possibility of an underlying space-occupying lesion such as a brain tumour.

Corneal light reflex test

For the non-specialist, the light reflex test is used to detect squints (Fig. 4.8). It is easiest to use a pen-torch held at a distance to produce reflections on both corneas simultaneously. The light reflection should appear in the same position in the two pupils. If it does not, a squint is present. However, a minor squint may be difficult to detect.

Squints

Cover test

When a squint is present and the fixing eye is covered, the squinting eye moves to take up fixation (Fig. 4.9). The child’s interest can be attracted with a toy or light. The test should be performed with the object near (33 cm) and distant (at least 6 m), as certain squints are present only at one distance. Occlusion should be with a card or plastic occluder. These tests are difficult to perform and reliable results are best obtained by an orthoptist or ophthalmologist.

Multidisciplinary child development services

Although children with a wide range of conditions have additional needs, the term ‘special needs’ is usually used for children with developmental problems and disabilities. In order to optimise their assessment and care on an ongoing basis, child development services have been developed nationally on a geographic area as a secondary care service.

A child development service (CDS):

• is multidisciplinary with predominantly health professionals (paediatrician, physiotherapist, occupational therapist, speech and language therapist, clinical psychologist, specialist health visitor, dietician) in the team but often also includes a social worker (Fig. 4.10)

• is multi-agency (Fig. 4.11) and may include health, social services, education, volunteers, voluntary agencies, parent support groups

• aims to provide a coordinated service with good inter-agency liaison to meet the functional needs of the child

• predominantly sees preschool children with moderate or severe difficulties but may have resources to support children with milder problems

• may provide multidisciplinary support and monitor children up to school-leaving age (16–19 years)

• maintains a register of children with disabilities and special needs (this may be held by Social Services, but there is an increasing trend to single multi-agency Special Needs registers)

• is community or hospital based but has emphasis on children’s needs within the community (home, nursery, school), regardless of its location

• often has a nominated key worker for a child, to facilitate parents getting access to information and services their child may need.

Child development services in the UK now usually use the Common Assessment Framework (CAF) to allow multidisciplinary sharing of information.

Emphasis is on:

Functional skills kept under review include:

Many children with special needs have medical problems (Fig. 4.10) which require investigation, treatment and review. Good inter-professional communication is vital for well-coordinated care. This is assisted by all professionals keeping entries in the child’s personal child health record up to date.

In addition to locally organised child development services, specialist neurodisability services are required for:

• Rehabilitation following acquired brain injury

• Surgery for cerebral palsy, scoliosis

• Gait analysis

• Spasticity management, including botulinum toxin injections to muscles

• Epilepsy unresponsive to two or more anticonvulsants or where there is severe cognitive and behavioural regression related to epilepsy

• Complex communication disorders, diagnosis and therapeutic intervention

• Mixed complex learning problems, often with neuropsychiatric co-morbid symptoms

• Provision of communication aids (Fig. 4.12).

• Sensory impairments, e.g. cochlear implants

• Services for severe visual and hearing impairment

• Specialised seating/wheelchairs and orthoses (Fig. 4.13).

• Management of movement disorders, e.g. continuous infusion of intrathecal baclofen and deep brain stimulation to basal ganglia.

Needs are likely to change over time with key stages being at transition to school and adult services. A care plan should be developed at each stage and needs to be shared with the child and family and then regularly reviewed. Involvement with specialist services may be of variable frequency throughout childhood. Collaboration across services is vital in promoting a service tailored around the child and family.

Education

In England and Wales, several Education Acts and the 2000 Code of Practice have made provision for children with special educational needs to receive educational input appropriate to their requirements. This includes their right to integration into mainstream education whenever possible. Education authorities have a duty to identify children whose special educational needs will require additional resources.

Initial recognition that a child may have special educational needs (SEN) may occur at the preschool stage in children with specific or global developmental delay or with specific disabilities, or may only become evident when the child is of school age. Early identification and initiating appropriate help maximises the child’s opportunity to progress. The local education authority (LEA) is informed of these children by a process called ‘notification’, usually by the paediatrician if preschool or by an education professional if at school. Notification is a statutory requirement if a health professional identifies that a child may have special educational needs.

The 2000 Code of Practice suggests that pupils’ needs may fall within four broad areas:

Where a child is identified as having special educational needs, a special educational needs’ coordinator (SENCO) within the teaching staff is responsible for formulating an individual education plan (IEP) for the child within the school or nursery or for seeking help from external services, e.g. educational psychology.

Extra educational provision in school is commonly provided at three levels: School action is the first internal level of extra support; School action plus may involve external support services, such as a behaviour specialist or teacher for the visually impaired. If a child’s needs are more significant, the LEA is asked to conduct a statutory assessment of a child’s educational needs. This may lead to a Statement of Special Educational Needs, which is a document identifying the extra help the child needs and is reviewed annually. Parents can also request such an assessment. The statementing process may start before school age in preparation for a child who is expected to have SEN, such as children with Down syndrome or severe cerebral palsy.

Although children are integrated into mainstream school where practicable, special schools or units are usually more suitable for children with severe learning difficulties and sometimes for those with severe physical, sensory, communication or behaviour problems. Many special educational placements will have a need for therapy input (physiotherapy, occupational and speech/language therapy) as well as specialised teaching resources. Support for the behavioural needs of a child may come from a clinical or educational psychologist.

Transition of care to adult services

In the UK, adult disability services are in general still poorly developed by comparison to those provided for children. Young adults with severe learning and physical disabilities are supported by Adult Learning Disability Teams, but there is only limited national provision for those with mild or moderate learning disabilities or with a predominantly physical disability. Major issues for young adults with disabilities include social challenges: namely, care, housing, mobility, finance, leisure, employment, and genetic and sexual counselling. Health information must be properly transferred from child to adult health services if reinvestigation of already well-clarified conditions is to be avoided.

The rights of disabled children

Irrespective of their disability, the aspirations and rights of children, as affirmed by the United Nations Convention on the Rights of the Child, need to be respected (see Ch. 1). Technological advances to improve mobility, communication and emotional expression are helping enable people with disability to better achieve their full potential, rather than being held back by their disability. However, this requires skilled assistance and adequate resources. Prominent public figures who function effectively despite disabilities help to make the public appreciate what can be achieved and serve as an inspiration to those with disabilities. The World Health Organization’s model of the international classification of functioning, disability and health (ICF) stresses the important outcomes of activity and participation. Any interventions for people with disability either on an individual level or in society as a whole should aim to improve these outcomes.