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NORMAL AND ABNORMAL DEVELOPMENT PSYCHIATRY 7:6 235 © 2008 Elsevier Ltd. All rights reserved. Clinical evaluation of child development from birth to five years Ajay Sharma Tony O’Sullivan Gillian Baird Abstract Children’s developmental progress is a dynamic and transactional process that involves multiple influences. Developmental delays and disorders often coexist with behavioural problems, and any comprehen- sive clinical process should include a method for their identification. This article emphasizes the essential competencies for clinical evaluation of children’s development. It introduces a basic conceptual framework for understanding children’s typical development and some generic features that suggest abnormalities of development. Typical and ‘red flag’ ages in the children’s developmental progress are described in each domain. Some key principles for taking history and making observations are high- lighted. An outline of the current understanding of the evidence-based investigations is provided. Some practical considerations for making a developmental diagnosis, seeking further opinion and management planning are discussed. Keywords assessment; children; delay; development; disorder; investigations A comprehensive clinical evaluation of children with behavi- oural concerns includes consideration of physical, developmen- tal, emotional, behavioural, social and environmental aspects. The differential diagnosis of a child’s behavioural signs and symptoms includes the possibility of organic and developmental disorders. Behavioural and emotional disorders are much more common in children with developmental disorders. While physi- cal disease may be identified by laboratory tests, developmen- tal markers help to identify the developmental disorders. The clinician’s toolkit must include a working knowledge of typical developmental ages or milestones and ‘red-flag alerts’ – ages that indicate significant delay. Competency is needed to elicit Ajay Sharma FRCPCH is Consultant Paediatrician (Community Child Health) at Southwark Primary Care Trust, London. Conflicts of interest: none declared. Tony O’Sullivan FRCPCH is Consultant Paediatrician (Community Child Health) at Lewisham Primary Care Trust, London. Conflicts of interest: none declared. Gillian Baird FRCPCH is Consultant Paediatrician and Honorary Professor in Paediatric Neurodisability at Guy’s and St Thomas’ NHS Trust, London. Conflicts of interest: none declared. relevant developmental history, make observations and assess a child’s development, undertake relevant physical examination and investigations and access local services for further assess- ment. A close working relationship is therefore essential between the child development team, the hospital paediatric services and the child and adolescent mental health services (CAMHS). Child development Child development is a dynamic process shaped by a complex interplay between genetic factors and environmental factors, such as antenatal maternal health (including fetal exposure to toxins), in utero conditions, the birth process, nutrition, the eco- nomic and social conditions facing the family, and family inter- personal behaviour. A developing child is transformed from a wholly dependent and reactive infant into a proactive and rela- tively independent child at school entry: mobile, dexterous, com- municative, sociable and able to look after her/his basic needs. The sequences of development are similar in most children and the developmental milestones are useful markers to observe the rate of development. But there is enormous variation in both the rate and the pattern of normal development. Warning signs of abnormal development A sound knowledge of typical child development makes it pos- sible to recognize when development is going wrong. It is worth considering the common presentations, developmental red flags, and less common but important scenarios: delayed rate of development beyond accepted normal range of variation in one or more developmental domains (e.g. mouth- ing beyond the second year, and echolalia (repetitive imita- tion of speech) still present by 3 years) absolute failure to develop skills (e.g. no canonical babble (multi-syllable babble with intonation) by 10 months) disordered developmental sequence (e.g. hyperlexia (advanced reading) coexisting with delayed language) motor asymmetry in hand use or walking developmental regression – loss/plateauing of skills. The developmental examination History-taking Obtaining a good history is the most useful aspect of develop- mental assessment in terms of establishing any diagnosis, caus- ative and associated conditions. A history should cover the family history, social and family environment, and the pre-, peri- and postnatal history. A clinical session starts with enquiring into the parents’ or other caregivers’ concerns. This proactive eliciting of concerns, beginning with the broad areas of function, guides the clinician in focusing on areas for further elaboration through history and examination. Gathering of information from others who know the child (e.g. teachers, healthcare staff) is important in eliciting pervasiveness of concern. Parents used to be perceived as not particularly good infor- mants of their children’s development, but this was partly a result of asking too detailed questions about the age of acqui- sition of particular skills. Asking open-ended questions and then requesting examples elicits the most reliable history. All parents are very good at remembering whether or not they

Clinical evaluation of child development from birth to five years

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Page 1: Clinical evaluation of child development from birth to five years

Normal aNd abNormal developmeNt

Clinical evaluation of child development from birth to five yearsajay Sharma

tony o’Sullivan

Gillian baird

AbstractChildren’s developmental progress is a dynamic and transactional

process that involves multiple influences. developmental delays and

disorders often coexist with behavioural problems, and any comprehen-

sive clinical process should include a method for their identification. this

article emphasizes the essential competencies for clinical evaluation of

children’s development. It introduces a basic conceptual framework for

understanding children’s typical development and some generic features

that suggest abnormalities of development. typical and ‘red flag’ ages

in the children’s developmental progress are described in each domain.

Some key principles for taking history and making observations are high-

lighted. an outline of the current understanding of the evidence-based

investigations is provided. Some practical considerations for making

a developmental diagnosis, seeking further opinion and management

planning are discussed.

Keywords assessment; children; delay; development; disorder;

investigations

A comprehensive clinical evaluation of children with behavi­oural concerns includes consideration of physical, developmen­tal, emotional, behavioural, social and environmental aspects. The differential diagnosis of a child’s behavioural signs and symptoms includes the possibility of organic and developmental disorders. Behavioural and emotional disorders are much more common in children with developmental disorders. While physi­cal disease may be identified by laboratory tests, developmen­tal markers help to identify the developmental disorders. The clinician’s toolkit must include a working knowledge of typical developmental ages or milestones and ‘red­flag alerts’ – ages that indicate significant delay. Competency is needed to elicit

Ajay Sharma FRCPCH is Consultant Paediatrician (Community Child

Health) at Southwark Primary Care Trust, London. Conflicts of interest:

none declared.

Tony O’Sullivan FRCPCH is Consultant Paediatrician (Community Child

Health) at Lewisham Primary Care Trust, London. Conflicts of interest:

none declared.

Gillian Baird FRCPCH is Consultant Paediatrician and Honorary Professor

in Paediatric Neurodisability at Guy’s and St Thomas’ NHS Trust,

London. Conflicts of interest: none declared.

pSYCHIatrY 7:6 23

relevant developmental history, make observations and assess a child’s development, undertake relevant physical examination and investigations and access local services for further assess­ment. A close working relationship is therefore essential between the child development team, the hospital paediatric services and the child and adolescent mental health services (CAMHS).

Child development

Child development is a dynamic process shaped by a complex interplay between genetic factors and environmental factors, such as antenatal maternal health (including fetal exposure to toxins), in utero conditions, the birth process, nutrition, the eco­nomic and social conditions facing the family, and family inter­personal behaviour. A developing child is transformed from a wholly dependent and reactive infant into a proactive and rela­tively independent child at school entry: mobile, dexterous, com­municative, sociable and able to look after her/his basic needs. The sequences of development are similar in most children and the developmental milestones are useful markers to observe the rate of development. But there is enormous variation in both the rate and the pattern of normal development.

Warning signs of abnormal developmentA sound knowledge of typical child development makes it pos­sible to recognize when development is going wrong. It is worth considering the common presentations, developmental red flags, and less common but important scenarios: • delayed rate of development beyond accepted normal range of

variation in one or more developmental domains (e.g. mouth­ing beyond the second year, and echolalia (repetitive imita­tion of speech) still present by 3 years)

• absolute failure to develop skills (e.g. no canonical babble (multi­syllable babble with intonation) by 10 months)

• disordered developmental sequence (e.g. hyperlexia (advanced reading) coexisting with delayed language)

• motor asymmetry in hand use or walking • developmental regression – loss/plateauing of skills.

The developmental examination

History-takingObtaining a good history is the most useful aspect of develop­mental assessment in terms of establishing any diagnosis, caus­ative and associated conditions. A history should cover the family history, social and family environment, and the pre­, peri­ and postnatal history. A clinical session starts with enquiring into the parents’ or other caregivers’ concerns. This proactive eliciting of concerns, beginning with the broad areas of function, guides the clinician in focusing on areas for further elaboration through history and examination. Gathering of information from others who know the child (e.g. teachers, healthcare staff) is important in eliciting pervasiveness of concern.

Parents used to be perceived as not particularly good infor­mants of their children’s development, but this was partly a result of asking too detailed questions about the age of acqui­sition of particular skills. Asking open­ended questions and then requesting examples elicits the most reliable history. All parents are very good at remembering whether or not they

5 © 2008 elsevier ltd. all rights reserved.

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had concerns and, if so, what those concerns were. They are particularly good at observing current behaviour if the right questions are asked. Parents’ interpretation of what their child does may be incorrect (e.g. ‘he understands everything I say’) but their observations are usually accurate (e.g. ‘he will fetch his shoes only if they are visible’). Parents can be helped in remembering examples of developmental achievements by focusing the enquiry around transition points such as starting at the nursery or the school or other significant events such as birthdays and house moves.

The assessor should ask for the parents’ view of the cause of any developmental problem. If the child has a development dis­order, reassuring the parents about unwarranted concerns that they may have been responsible (e.g. a belief that autism could be caused by the mother going out to work, or being depressed) can reduce or remove their guilt. It is particularly important that developmental problems are not wrongly attributed to causes that are plausible but improbable, such as MMR immunization or obstetric intervention. A traumatic event, such as the umbilical cord around the neck of the child at birth or a forceps delivery, alone is an unlikely aetiology of a neurodevelopmental disor­der. Nevertheless, it is valuable to establish, from independent enquiry, the reason for obstetric intervention (e.g. fetal distress), the condition of the baby at birth (e.g. Apgar score<5 at 5 or 10 minutes), and any history suggestive of neonatal encephalopathy (e.g. neonatal fits). The child’s current general health and a his­tory of serious illnesses may be relevant to understanding current abnormalities of behaviour or learning.

Developmental differencesDevelopmental differences exist between boys and girls (e.g. boys tend to lag behind girls in language). Boys are, on average, 1 month delayed in early language development compared to girls, but the difference accounts for less than 2% of the varia­tion within the sexes and across ages. Gestational age should be considered when seeing a child under the age of 24 months, and correction should be made when assessing age­appropriate attainments, especially in the first postnatal year.

Observation and interactive assessment

The most meaningful and valid ascertainment of a child’s abili­ties is obtained by combining observations made in a free­play and interactive session with information from a structured and relatively distraction­free session using developmental domain­specific material. Observations should also include the child’s social awareness, interests, attention, anxiety, their initiating and responding to interactions and any repetitive movements or behavi­ours. Any change in function and behaviour with increasing task complexity, such as changing from non­verbal to language­based activity, and over time should be noted. The child’s inability to organize the environment and generate ideas on their own is a significant finding and may not be noticed if an adult is too help­ful. One of the cardinal rules of developmental assessment is to look not only at what the child does, but also how he or she does it. The quality of response should therefore be monitored as well as the actual achievement. A range of standardized assessments is available to help gather detailed normative information for diag­nostic or monitoring purposes. Some developmental assessment

pSYCHIatrY 7:6 23

schemes are practical, taking 15–20 minutes, and are easy to learn, although each has drawbacks as well as strengths.

A suitable selection of toys should be made available before meeting the family and interacting with the child. These should be appropriate for the age of the child and the domains of develop­ment to be assessed; for example: • copying behaviour (bell) and understanding of cause and

effect (pop­up animals toy) • definition by use (cup/spoon, doll/brush) and symbolic

understanding (doll/teddy/tea­set) • fine motor/eye–hand (bricks, crayons/pencil/paper, soft ball,

form boards, puzzles) • language and play (books with single pictures and stories, range

of everyday toy objects, large and miniature world toys).

Developmental domains

Developmental milestones or norms are a way of describing development in a sequential manner. Delays in some devel­opmental sequences may indicate an underlying neurological, visual or hearing problem that requires an early referral for fur­ther assessment. These are indicated below as ‘red flag’ ages. Children with moderate or severe developmental delay, plateau­ing or regression of development will also require further assess­ment and investigations.

Gross motorDelay in achievement of the gross motor milestones (Table 1) may be an indicator of neurological abnormalities and is some­times associated with a global developmental delay. Although the correlation between gross motor skills and global developmental level is weak, there is usually an impact on skills that depend on an intact motor system for their expression. Developmen­tal assessment involves establishing the child’s progress in the sequence of development, the style of learning, behaviours that interfere with learning (e.g. avoidance), any sensory sensitivi­ties or impairments, and a qualitative description of the child’s motor competences. Clinical interpretation requires combining this information with the findings of physical examination.

Visual behaviour, eye–hand coordination and problem solvingProgressive coordination of maturing vision with head, body and fine motor movements and an increasing ability to comprehend and solve problems can be observed through creating a range of

Gross motor milestones

Developmental milestone Mean age

(months)

Limit age, red

flag (months)

Hands open most of the time

(not fisted)

3 4

Good head control when sitting:

no head lag when pulled to sit

4 6

Sits independently 7–8 10

Walks alone 11–13 18

Table 1

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test situations such as manipulation and use of pellet, rings, bell, cubes, crayon/pencil, form boards or puzzles. The use of many such interesting and non­threatening test situations also helps to tease out the relative contributions of experience, emotional factors, and motor and cognitive abilities. Children’s achieve­ments in this domain represent the precursor to later non­verbal problem­solving abilities, correlate well with overall intellectual ability and may provide early markers for learning, psychological and psychiatric disorders.

Coordinated eye movements and eye–head coordination: the earliest developmental sequence starts with fixing gaze on the mother’s face, then to following a face with eyes only, and then being able to coordinate eye–head movements to turn head to fol­low visually (Table 2). Any abnormality of early visual behaviour should prompt an early referral for ophthalmological assessment.

Eye–hand coordination: in this developmental sequence the infant shows visual awareness of hands and becomes increas­ingly refined in combining vision with hand movements for reaching, grasping, exploring and releasing objects (Table 3).

Object concepts and relationships: this developmental sequence reflects infants’ growing understanding of the nature of objects, their relatedness to each other and in space (visuo­spatial) com­bined with a refined grasp and release ability (Table 4).

Copying cube models: this sequence shows children’s desire and ability to copy from models (combining the processes of encoding, decoding and executing) – moving on from vertical alignment to horizontal alignment to making two­ and three­dimensional models (Table 5).

Drawing: children initially start jabbing pencil on paper just as they relate any other two objects together. This is followed by their interest in making a mark on the paper and then making vigorous uncontrolled scribble. By the end of their second year they can do controlled circular scribble and soon imitate others’ hand move­ments to draw a line and later a circular shape before they are able to copy a predrawn circle or other shapes. Children gradually refine their grasp – 50% of children by the age of 3 years and 80% by 4 years have a good tripod grasp of a pencil (Table 6).

Language and communicationIdentification of language impairment needs to combine infor­mation from parents, and observations/assessment. Parents’ reporting of expressive language is improved by making lists of

Eye–head coordination milestones

Developmental milestone Limit age (months) Red flag

visually alert, orients to face 1 any delay

visually follows face 2 any delay

Coordinates eye movements

with head turning

3 any delay

Table 2

pSYCHIatrY 7:6 23

spoken words or phrases. As children have good understanding of daily family routines, their language comprehension is often overestimated by parents and healthcare professionals!

Infants show preference to the mother’s voice within the first few days of birth, make responsive ‘cooing’ sounds within the first few months and play ‘lap games’ by 6 months. At around 9 months the infant begins to combine vocalizations and gestures to convey wishes, feelings, purpose and experience to others. At this stage, some infants may imitate the sounds of certain often­repeated family words. This is followed by the development of speech and language understanding and expression with a con­siderable variation between children (Table 7).

Eye–hand coordination milestones

Developmental milestone Mean age

(months)

Holds objects briefly when placed in hands without

visual regard

3

visually examines own hand 4

reaches out with a two-handed scoop 5

reaches out and grasps objects on table surface

without a raking grasp

6

transfers from hand to hand 6

explores with index finger 6

picks up a pellet/raisin between thumb and finger 9

picks up a string between thumb and finger 10

Can release in a container 10

Has mature grasp 12

Has precise release – without pressing on surface 13

builds towers to 2 cubes 13

builds towers to three cubes 16

turns pages of a book one page at a time 24

Table 3

Object concepts and relationships milestones

Developmental milestone Mean age

(months)

permanence of object: looks for hidden object 8

‘Cast’: drops repeatedly – enjoys sound and attention 8

Cause and effect: presses or pushes to activate a toy 9

means–end relationship: pulls toy placed out of

reach with a string

9

relating two objects together 10

relating objects: enjoys putting things in and out of

container

10

Simple posting games: round shapes 12

matches simple shapes 16–18

matches three shapes with good ‘scanning’ 24

Table 4

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Play and social behaviourObservation of play offers a unique opportunity to look at a number of developmental sequences as they come together, including initia­tion of and response to social interaction and communication (using both verbal and non­verbal skills), imagination and the ability to generate varied ideas in play and to sustain these for a period of time while remaining alert to the social environment (Figure 1).

Development of attentionChildren pass through a number of different developmental stages as their attention, listening and self­regulatory skills improve. Below are the 6 main stages.

Stage 1 – children at this stage are very distractible. Their attention is held momentarily by whatever is the dominant stim­ulus (Year 1).

Stage 2 – at this stage children can concentrate on a task of their own choice. They have to ignore all other things in order to focus on this one task. Children are very resistant to interference by an adult (Year 2).

Stage 3 – by now, children are beginning to allow an adult to shift them from one task to another. Attention must still be fully gained before changing focus (Year 3: ‘single­channel attention’).

Stage 4 – children now start to become able to control their own focus of attention. They move gradually towards needing

Cube model copying milestones

Developmental milestone Mean age (months)

Horizontal alignment of bricks 24

3-cube bridge 33

4-cube train with a chimney 39

3 steps with 6 cubes 48–54

4 steps with 10 cubes 60

Table 5

Drawing milestones

Developmental milestone Mean age (months)

Shape copying

makes a mark on paper 15

Scribble 18

Copies lines 24

Copies a circle 36 (90% by 24 months)

Copies a cross 42 (90% by 48 months)

Copies a square 48

Copies a triangle 60

Copies a diamond 66–72

Drawing a person

Figure with a head, other parts, no body 36 (80% by 45 months)

Figure with head, body, limbs 54

Table 6

pSYCHIatrY 7:6 23

to look at an adult only when the directions become difficult to understand (Year 4: early ‘integrated attention’).

Stage 5 – at this stage, children are usually entering school. They can now perform an activity while listening to the teacher giving directions (Year 5: mature integrated attention).

Stage 6 – this is a mature stage where attention skills are flex­ible and sustained for lengthy periods.

Cognitive developmentDevelopment of cognition, the progression from cause and effect and object permanence to increasingly conceptual and complex thinking is observed non­verbally, in the matching of shapes,

Language and communication milestones

Developmental milestone Mean age

(months)

Range

(months)

Comprehension/receptive language

Understands ‘no’/‘bye’ 7 6–9

recognizes own name 8 6–10

Understands familiar names 12 10–15

definition by use: using objects by 15

Giving objects on request by 15

points to body parts on self/carer 15 12–18

points to body parts on doll 18 15–21

Identifying objects on naming by 24

Follows a 2-step command 24 18–27

Functional understanding 30 21–33

Understands prepositions (in/on) 24 18–33

Understands prepositions (under) 30 24–39

Understands action words (e.g. eating,

sleeping)

by 36

Understands simple negatives 36 30–42

Understands comparatives 42 36–48

Follows 2 instructions (4 ideas) 42 36–48

Understands complex negatives 48 42–60

Follows 3 instructions (6 ideas) 54 48–66

Expressive language and non-verbal communication

Jargon 12 10–15

Syllabic and tuneful babble 8 6–9

pointing to demand 9 9–14

pointing to share interest 10 9–14

one word 12 10–18

2–6 words 15 12–21

7–20 words 21 18–24

50+ words 24 18–27

2 words joining 24 18–30

200+ words 30 24–36

3–4 words joining 30 25–36

Speech usually understandable 30 30–42

Question words 36 30–42

pronouns 42 36–48

Uses conjunctions (and, but) 48 36–54

Sentences of 5+ words 48 36–54

Complex explanations and sequences 54 48–66

Table 7

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Developmental sequences involved in play

Cognitive play sequence

Social play sequence

Object oriented

exploratory play

(maturing eye–hand

co-ordination and

object concepts)

18 months9 months

Functional use of real

objects on self and

others (e.g. spoon,

brush)

24–30 months

Symbolic use of toys

(e.g. toy, tea set, doll)

3–4 years

Pretend or imaginative

play

6–12 months

Social anticipation

Lap games

(e.g. peek-a-boo,

pat-a-cake)

4–5 weeks

Social smile

(90% by 6 weeks)

10–15 months

Joint attention

Points to show

3–3.5 years

Social imitative play

(e.g. role play)

Figure 1

patterns and pictures (deliberate rather than trial and error), and verbally and socially in the development of conceptual vocabu­lary – which toys go together for a particular attribute or attri­butes and in the number of ideas shown in play. Many children with significant global developmental delay or with severe delay or abnormality in one particular domain have long­term cogni­tive and functional impairments.

Significant developmental delayThe following is a guide to significant delay at varying ages. Moderate delay occurs approximately when the age equivalent for achieved milestones is between two­thirds and half of chron­ological age (CA), and severe delay occurs when milestones are equivalent to 50% or less of CA (allowing for prematurity up to 2 years). These examples describe the ages commonly seen at referral for developmental concerns:

At 8 months: • moderate delay – developmentally 4–5 months (e.g. not sit­

ting without support, not rolling, no single­syllable babble) • severe delay – developmentally less than 4 months (e.g. not

lifting head).

At 2 years: • moderate delay – developmentally 12–18 months (e.g. less

than 10 words and not following simple commands) • severe delay – developmentally less than 12 months (e.g.

no single words, not walking, no functional play, no joint attention).

At 3 years and 6 months: • moderate delay – developmentally 21–28 months (e.g. just

linking words, less than 50 words, minimal concepts, cannot draw circle)

pSYCHIatrY 7:6 23

• severe delay – developmentally less than 21 months (e.g. sin­gle words or less, simple commands, but no concepts).

Physical examination

The physical examination is generally left to the end of the assess­ment, as the child may become upset and this would interfere with a subsequent developmental examination. The following key guidelines should be observed.

Motor function – determine whether the child has a motor disorder or if any delay is part of a global learning difficulty. Observe movement patterns and posture during the appointment and developmental examination, when the child is walking, speaking and handling material. This should give a good idea of the nature and extent of any motor problem. Formal examination of tone, reflexes and power is largely confirmatory.

Symmetry – compare the two sides of the body and determine the child’s hand preference. The motor skill, tone reflexes or limb size may be significantly asymmetrical, suggesting hemisphere dysfunction or other pathology.

Growth – measure the head circumference, height and weight and plot on a centile growth chart. Compare the consistency of the parameters and assess the growth rate. If concerned about the head size, it may be advisable to measure the parents’ head circumference (familial inheritance is the usual reason for an excessively large head, and there may be inherited reasons for microcephaly).

Sight – examination of the optic discs and fundi will usually not be possible, but it may be necessary to arrange this via the ophthalmologist or paediatrician (e.g. for septo­optic dysplasia, raised intra­cranial pressure). All children with significant devel­opmental disorders should be referred to ophthalmology.

Hearing would have been tested in the neonatal period but some sensori­neural losses may be progressive and some children

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will have persistent middle ear problems. If there is any delay in language development and in all cases of significant learning or other developmental disorder, referral to audiology should be made.

Malformation – look for dysmorphic features and congenital malformations. They may suggest a particular syndrome or aeti­ology (e.g. fetal alcohol syndrome).

Skin – carefully examine the skin for pigmented and hypopig­mented spots. Where there is significant developmental delay, and especially with epilepsy, a Wood’s ultraviolet light examina­tion should be performed (for ash­leaf skin patches in tuberous sclerosis) or arranged.

pSYCHIatrY 7:6 24

Planning investigations

The purpose of investigating the child with developmental dis­order is to seek the cause of the disorder or to look for any asso­ciated or exacerbating conditions, such as hypothyroidism in Down’s syndrome or hearing loss co­existing with autism. When planning the investigations consider: • what is the likelihood of the condition under investigation

being present? • are there benefits from an early diagnosis: would it alter man­

agement (e.g. by informing genetic advice), and what ‘bad outcomes’ could be prevented?

Investigation planning for developmental disorders

Context Recommended investigations Comments

Children with moderate or severe

global developmental delay

• Creatine kinase in boys aged less

than 3 years

• thyroid function tests irrespective

of neonatal screening

• Chromosomes for karyotype

• molecular analysis for fragile X

• mrI scan or Ct scan in more severe

mental retardation

• toxoplasma, rubella assay and Cmv

urine culture in children aged under

2 years

• Some consensus guidelines also recommend serum

lead, urate, U&e, ferritin and biotinidase

• Subtelomere FISH is receiving increasing support as

a routine investigation in children with generalized

learning difficulties/mental retardation (mr). Some

studies report such chromosome subtelomere

rearrangements occurring with a frequency of 7–10% in

children with mild-to-moderate mr and approximately

50% of cases are familial. positive results from this

investigation are 8 times more likely than fragile X in

some learning-difficulty populations

• plasma calcium and alkaline phosphatase

may help with diagnosis and management of

diGeorge syndrome, William’s syndrome, and

pseudohypoparathyroidism, and where motor delay is

due to vitamin d deficiency

associated abnormal head size

(micro- or macrocephaly), seizures,

focal neurological features, including

severe oromotor impairment and

speech abnormality

• mrI

• Karyotype and specific molecular

genetic tests (e.g. looking for 22q

deletion in oromotor and speech

dysfunction)

• Hb and FbC

• In some cases mrI studies can show a characteristic

signature for metabolic, neurocutaneous and

degenerative disorders and can even give enough

information to direct subsequent genetic testing

Specific history or examination

findings suggestive of poor nutrition

or neurometabolic disorders

• metabolic investigations – serum

amino acids, ammonia, vlCFa,

carnitine, homocysteine,

disialotransferrin

• Urine – organic acids, orotate,

GaGs, oligosaccharides

• Key pointers for metabolic disorders in the clinical

history include consanguinity, failure to thrive, and

episodic neurodevelopmental decompensations (often

during minor illnesses). examination findings may

include coarse facial features, or hepatosplenomegaly

Specific history or examination

findings suggestive of epilepsy or

specific behavioural phenotypes

(e.g. angelman syndrome)

• electroencephalography (eeG)

• referral to a paediatric neurologist/

consultation for planning further

appropriate investigations

• In angelman syndrome, characteristic eeG changes may

precede seizures. diagnosis is confirmed by deletion or

uniparental disomy on chromosome 15

• In many countries the human immunodeficiency

virus- linked infections are becoming an important

cause of regression with neurological and

neuropsychiatric manifestations usually presenting in

the first 3 years of life

regression with or without

associated features

Cmv, cytomegalovirus; FbC, full blood count; FISH, fluorescent in situ hybridization; GaGs, glycosaminoglycans; Hb, haemoglobin; U&e, urea and electrolytes; vlCFa, very long chain fatty acids.

Table 8

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• will the diagnosis give information of value to parents in their planning and coping?The answers to these questions may not always be clear but

their purpose is to focus investigation and to remain alert to the possibility of over­investigating a child. However, there is also the danger of under­investigating. If impairments are not detected early, other disabilities may result, which may be a source of resent­ment in parents when a late diagnosis is made (e.g. late diagnosis of hearing loss associated with failure to develop oral language adequately). Even more distressing is the scenario where a delay in genetic diagnosis may have led to the parents going ahead with a subsequent pregnancy, which they would have avoided had they known that their delayed child had an autosomal or X­linked recessive condition. A balance needs to be struck between the two approaches – the conservative and the aggressive – when inves­tigating the child with developmental delay. There is limited evi­dence basis for guidance and the suggested investigations depend on the type of developmental disorder and associated findings in history and examination. The diagnostic yield is highest for global developmental delay with associated history or physical abnor­malities on examination and lowest for isolated developmental problems. For example, there are no routine investigations recom­mended for children with isolated language delay. However, spe­cific enquiry should be made regarding concerns for hearing and vision, and in general there should be a low threshold for making hearing or vision checks. Table 8 shows an outline of the current evidence­based guidance for investigations.

Developmental diagnosis and management

• The outcome of the examination is a profile of the child’s developmental abilities and areas of difficulty, alongside the behavioural and mental health assessment. Consider how this profile reflects a child’s adaptation to the given biological and en­vironmental constraints: repeated observations may be required for interpretation. A narrow focus on the child’s difficulties in one particular domain, without attention to other possible fac­tors, may lead to a wrong conclusion such as diagnosing devel­opmental delay in the presence of sensory impairment or poor social environment. An impulsive, anxious or a withdrawn child may under­perform on certain developmental tasks, giving vari­ability in results. The complexity and, at times, the uncertainty of the situation, must be acknowledged and shared with the carers. • The combined picture may point to a specific developmental delay or disorder (e.g. learning disability, autism). The clinician should be aware of the common behavioural phenotypes or seek appropriate advice.

pSYCHIatrY 7:6 24

• Functional difficulties may require referral for specialist as­sessments (e.g. speech and language therapy, occupational ther­apy, physiotherapy, or the community paediatrician) even where there is no specific diagnosis. • Teachers are often a good source of information for nurs­ery/school­age children, and should be informed regarding any concern or identified difficulties for the provision of additional educational help. Good inter­agency liaison is needed to address complex needs. • Concerns regarding a child’s protection or care may arise from combining multidisciplinary information from different settings. An early discussion with an experienced clinician and an intera­gency approach are essential for identification or prevention of potential risk to the child. • For many children, close links between CAMHS and the child development team help integrate the different aspects of their assessment and management, for example referral for language assessment. • Ongoing management may require shared care through part­nership with one or more agencies. • A clear management plan should be included in the assess­ment report, incorporating referrals and further investigations; plan for who is to review the child and, where relevant, a named lead/key worker for the family. ◆

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