Neurodevelopmental medicine

After reading this chapter you should be able to assess, diagnose and manage:

  • developmental disorders and learning difficulties

  • speech and language disorders including autism spectrum disorder

  • neurodevelopmental disorders

  • a child with neurodisability

The care of children with neurodevelopmental disorders covers a range of skills provided by different members of a large multidisciplinary team. The prime objectives of this team are the initial identification of areas of concern for the family, exploration of any underlying pathology, quantifying the extent of any disability and guiding families on how to support the child. Medical assessment, genetic counselling, physiotherapy, occupational therapy, speech and language support, vision and hearing review, education and social support are all needed.

Intellectual disability

Intellectual disability (ID), also referred to as learning disability (LD), indicates a cognitive testing result that is 2 standard deviations below the mean. This is equivalent to an IQ of 70.

A more useful definition, however, is:

  • a significantly reduced ability to understand new or complex information or to learn new skills

  • a reduced ability to cope independently

The majority of individuals with an ID do not have an identified underlying medical diagnosis. It is recognised that those infants born preterm (under 37 weeks’ gestation) are at increased risk of developmental concerns in later life, and the greater the prematurity the greater the risk of significant developmental issues. Children who present with developmental regression are of particular concern and need urgent review ( Table 27.1 ).

Table 27.1

Developmental warning signs

Age Identified feature
at any age maternal concern
regression of previously acquired skills
at 10 weeks not smiling
at 6 months persistent primitive reflexes
persistent squint
hand preference
little interest in people, toys, noises
at 10–12 months not sitting
no double syllable babble
no pincer grip
at 18 months not walking independently
fewer than 6 words
persistent mouthing and drooling
at 2½ years no 2–3 word sentences
at 4 years unintelligible speech

Important areas of assessment for potential developmental impairment include:

  • prenatal and perinatal history—maternal alcohol consumption, smoking, medication, illicit drugs, gestation, birth and postnatal complications

  • family history—consanguinity, family history of ID or neurological disorders

  • early milestones

  • age when concerns first noted and any regression

  • current school/nursery progress and learning styles

  • life skills (e.g. dressing, toileting, crossing a road, making a snack, negotiating friendships, understanding daily routines)

  • growth including head circumference (compared with OFC of parents)

  • features of any underlying syndrome

  • issues with hearing, vision, sleep and continence

  • school or nursery information of degree of impairment

There are situations where the clinical picture of ID is evident but where a more remedial issue is identified. These include:

  • significant neglect or emotional abuse

  • unrecognised sensory impairment—poor vision or hearing

  • motor dysfunction impacting on interaction and communication

  • untreated medical illness

  • mental and emotional health concerns


Some of the problems associated with ID are related to the underlying causes, but others are seen independent of whether any cause is identified. The following are more common in individuals with ID:

  • epilepsy (approximately 30 times more likely)

  • constipation (approximately 11 times more likely)

  • visual impairment (approximately 8 times more likely)

  • obesity

  • mental health disorder, particularly depression and anxiety

  • hearing loss

  • reflux and heartburn

  • some forms of dementia


Investigations must be tailored to the individual child and clinical judgement used as to which, if any, are required. Investigations to consider would aim to identify any underlying pathology and would include:

  • genetic analysis

  • metabolic screen

  • MRI imaging

  • EEG

  • skeletal survey

  • congenital infection screen

Treatment and management

For some with ID, there are specific management issues related to an underlying diagnosis. The majority with ID will not need long-term paediatric care unless there are allied medical concerns that require management in their own right. For most children and young people with ID, management is based around some guiding principles:


  • early referral to support teams such as Portage, preschool support or the school Special Educational Needs Coordinator (SENCO) and Specialist Teachers for vision/hearing impairment is important

  • Education and Health Care Plan (EHCP) should be provided that accurately reflects the needs and strengths of the young person and is made available, with parents’ permission, to the education team to help secure funding for ongoing support

  • EHCP continues until age 25 if still in education and many young people can go on to college or an employment placement. The young person may live in supported or independent accommodation with support


  • early referral to any required allied health teams such as Speech and Language Therapy, Physiotherapy and Occupational Therapy

  • GP is made aware that the young person has been diagnosed with ID as they will be required to undertake annual reviews from age 14 years

  • transition to adult care should commence by about 14 years of age and involvement of the following teams should be considered:

    • community mental health services

    • adult ID teams

    • adult specialists

    • dedicated transition clinics

Social and well-being

  • young people with ID are vulnerable to childhood abuse, exploitation (sexual, financial, criminal) and bullying and discrimination. It is therefore important to be aware of the features of emotional and mental health concerns that include an inability to fully express their feelings, manifesting as withdrawal, lethargy, distressed behaviour and anxiety.

  • at age 18, young people are assumed competent irrespective of ID or other factors. As they enter adult life, they may be unaware of how to ask for help when needed for issues including medical review, financial advice, mental health support, legal advice and accessing facilities and services

Cerebral palsy

Cerebral palsy is defined as ’a group of permanent neurological disorders resulting from non-progressive brain injury or malformation that occurred in the developing foetal or infant brain and primarily affecting body movement, posture and muscle coordination. The motor dysfunction in cerebral palsy is often associated with abnormal cognitive abilities including communication and behaviour disturbance’.

Cerebral palsy should be considered a description of clinical findings rather than a definitive diagnosis in itself as there are many aetiologies that result in the clinical picture of cerebral palsy. The movement disorder is often accompanied by other issues which may include:

  • intellectual disability

  • vision and/or hearing impairment

  • dysphagia, excessive drooling

  • gastro-oesophageal reflux

  • bladder and bowel issues

  • communication difficulties

  • epilepsy

  • recurrent respiratory illnesses

  • secondary musculoskeletal complications


Cerebral palsy can be classified in a number of different ways:

Type of movement disorder:

  • spastic (motor cortex damage)

  • dyskinetic (basal ganglia damage—resulting in additional involuntary movements)

  • ataxic (cerebellar damage affects proprioception)

  • mixed pattern (damage to a combination of areas)

Distribution of the effects on the limbs:

  • bilateral (diplegia or quadriplegia)

  • unilateral (hemiplegia or monoplegia)

Severity of impact on functional abilities:

  • clinical scales have developed to describe levels of motor skills, communication and functional capacity

Use of the appropriate terminology not only facilitates communication between professionals but can also help discuss a child’s broad prognosis and potential comorbidities.

Cerebral palsy may present with:

  • tonal abnormalities (a stiff irritable baby)

  • asymmetry of movements (early hand preference)

  • atypical or late motor development (delayed walking, persistent toe walking)

In the mildly affected child, issues may not become apparent until the child is independently mobile and starts to show more subtle differences such as toe walking. Clinical signs will depend on the nature and severity of the cerebral palsy but will include abnormalities of muscle tone, posture and reflexes, together with any developmental impact these may have.

Alternative diagnoses

Many other disorders may have an initial presentation similar to cerebral palsy and include:

  • inborn errors of metabolism—citrullinaemia and biotinidase deficiency

  • mitochondrial disorders—Leigh’s disease (though these features progress)

  • genetic dystonias, hereditary spastic paraparesis—children may have a family history of ‘cerebral palsy’


  • gastro-oesophageal reflux

  • sialorrhoea (drooling) due to bulbar dysfunction and poor oro-motor control

  • bowel and bladder dysfunction

  • epilepsy

  • sleep disorders due to pain and musculoskeletal discomfort

  • respiratory illnesses from aspiration of food or gastric contents and inadequate cough

  • postural issues can cause restrictive respiratory difficulties


All children with a clinical picture of cerebral palsy should have neuroimaging (preferably MRI) performed. This will often confirm underlying aetiological changes such as periventricular leukomalacia or a large middle cerebral artery infarct

Treatment and management

A coordinated multiagency approach is essential. Growing knowledge and understanding of the developing brain supports the need for early targeted intervention coordinated by a paediatrician who can make appropriate assessment and involve the appropriate members of the multidisciplinary team.

  • physiotherapy— to support and promote development of motor skills, maintain ranges of movement and minimise deformities and other complications of tonal and postural abnormalities

  • occupational therapy —to support development in play and self-care skills and participation needs in school/nursery

  • orthotics —provide a range of aids such as splints and gaiters to support a child’s posture and development

  • speech and language therapy —to address communication, feeding and swallowing difficulties

  • visual impairment —70% of children with cerebral palsy are thought to have some degree of strabismus, visual field loss, difficulties with eye movements, reduced visual acuity or cerebral visual impairment in which the eye has good visual acuity but the brain is not able to process the images seen

  • hearing impairment— an estimated 10% to 20% of children with cerebral palsy have some degree of hearing impairment

  • intellectual disability— affects around 50% of people with cerebral palsy and is moderate or severe in around 20%. Involvement of the early-years education team (Portage) may be appropriate depending on likely cognitive level or developmental trajectory.

Relevant pharmacological agents used

Medication may be required to manage hypertonia or symptoms of associated issues including gastro-oesophageal reflux disease, constipation, neuropathic bladder, drooling and epilepsy ( Table 27.2 ).

Table 27.2

Oral treatments for hypertonia

Drug Adverse effects Notes
Baclofen Constipation poor diffusion into brain
urinary retention can be given intrathecally
Diazepam Sleepiness dependence may occur with prolonged usage
respiratory depression
paradoxical agitation
Tizanidine Arrhythmias unlicensed in children
drowsiness blood monitoring in those on high doses
hepatic enzyme elevation
Dantrolene hepatic enzyme disorder monitoring of liver function advised
skin reaction

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Jul 31, 2022 | Posted by in PEDIATRICS | Comments Off on Neurodevelopmental medicine

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