The family doctor is in an ideal position to recognise and initiate evaluation of the child with a developmental disability, whether it is a physical disability or delay, an intellectual disability or a learning disability. All children with a suspected developmental delay should be promptly evaluated by a paediatrician or a multidisciplinary developmental assessment team, and the family doctor should remain a key player in the long-term management both of the child and the family.
Many developmental problems will be obvious but others are subtle. Several disabilities may evade a diagnosis. Transient developmental delay may be associated with factors such as prematurity, family stress, physical illness and learning opportunities, while persistent delay can be caused by intellectual disability, cerebral palsy, autism and hearing and visual impairment.
Many rare dysmorphic syndromes are becoming more recognised and defined with the rapid advances in genetics, and referral to genetic disorder units will help in getting an appropriate evaluation.
An appropriate history includes a careful look at developmental milestones, social and behavioural issues, and family history (see CHAPTER 9). A new diagnosis of developmental delay of any sort can have a massive impact on family members, especially parents, and the family doctor should keep a watchful eye on how they are coping and reacting to the diagnostic process.
The physical examination includes growth parameters, assessment of all developmental domains, looking for dysmorphic features, testing of hearing and vision, examining for neurocutaneous stigmata (e.g. café-au-lait spots, neurofibromas, hypopigmented macules) and careful systems examination, including cardiac and neurological examination. Eyes, ears, mouths (including teeth), hands and feet, and genitals should all be examined.
Investigations are usually coordinated via specialist services, but often include bloods (including karyotyping and genetic tests), urinary metabolic screening, and imaging such as cerebral MRI (which may require a general anaesthetic).
Intellectual disability (ID) is a neurodevelopmental disorder characterised by deficits in intellectual and adaptive functioning that present before 18 years of age.13 The term replaces and improves upon the older term ‘mental retardation’. The term ‘global developmental delay’ (GDD) is usually used to describe children <5 years of age who fail to meet expected developmental milestones in several areas of development. Not all children with GDD will meet criteria for ID as they grow older.
Presentations include learning difficulties, language delay and behavioural problems.
The two most common causes are trisomy 21 (see CHAPTER 18) and fragile X syndrome.
Fragile X syndrome, Prader–Willi syndrome and Williams syndrome are presented in CHAPTER 18.
Cerebral palsy (CP) is a physical disability that affects movement and posture, and is the most common physical disability in childhood (2 in 1000 live births). Its cause is usually unknown, but CP is associated with numerous antenatal and perinatal factors, including antenatal infections (e.g. rubella, CMV), birth defects, preterm birth, IUGR, multiple pregnancy, perinatal hypoxia and postnatal head trauma or cerebral infection. It is more common with low birth weight or low socioeconomic status. It can vary from minimal to profound disability.
There are 5 key elements:
It is an umbrella term for a group of disorders.
It is permanent, but not unchanging.
It involves a disorder of movement and/or posture and of motor function.
It is due to a non-progressive interference, lesion or abnormality.
The interference, lesion or abnormality originates in the immature brain.
3 in 4 are in pain
1 in 2 has an intellectual disability
1 in 3 cannot walk
1 in 3 requires a hip replacement
1 in 4 cannot talk
1 in 4 has epilepsy
1 in 4 has a behavioural disorder
1 in 4 has bladder control problems
1 in 5 has a sleep disorder
2 in 5 dribble
1 in 10 is blind
1 in 15 is tube fed
1 in 25 is deaf
Many different classification systems are used for CP. These include those based on:
severity—mild (no restriction of activities and mobile without aids), moderate (some assistance/aids required), severe (wheelchair and marked restriction of activities)
– paresis (weakened) vs plegia (paralysis)
– terms include: mono- (one limb), di- (two, usually legs), hemi- (arm and leg), para- (lower body), quadri- (4 limbs) and penta- (4 limbs and also head and neck/breathing issues)
motor function—spastic (pyramidal) versus non-spastic (extra-pyramidal)
muscle tone—hypertonic or hypotonic
Other terms used include ‘ataxic’, ‘dyskinetic’ and ‘athetoid’.
Severely affected children are often picked up soon after birth, but mildly affected cases may not be diagnosed for years. A family doctor who has any suspicion of a disorder in movement or posture should refer the child for specialist assessment, which may include a paediatrician, a paediatric physiotherapist or a multidisciplinary team assessment.
Depending on the clinical presentation, multiple investigations may be undertaken, including visual and hearing tests, pathology tests (e.g. karyotyping, genetic testing, urine metabolic screening) or imaging such as a cerebral MRI.
Management of motor and posture issues is largely the domain of therapists and specialist clinics such as a cerebral palsy clinic in a major hospital. Multiple team members may be involved, and the family doctor may be required to take a team management and coordination role. Other responsibilities that may be met by the family doctor include:
facilitating access to funding streams and services
diet and growth monitoring
monitoring and treating bladder issues, including UTIs
managing constipation issues
dealing with pressure sores
addressing sleep issues
helping with behaviour issues
looking at pain management
addressing family issues, such as parents coping or sibling dynamics
dealing with normal paediatric issues in general practice (e.g. immunisations, treating commonplace infections and injuries). These may present special challenges, depending on the level and type of CP
In May 2013, the DSM-513 made significant changes to autism terminology and classification that reflected recent research. Autism spectrum disorder (ASD) superseded autistic disorder, pervasive developmental disorder not otherwise specified (PDD-NOS) and Asperger disorder, though the latter term is also still widely used by clinicians and the public. This resulted in a change in the way autism was diagnosed, with three domains (social deficits, communication deficits and repetitive behaviour) reducing to two (social–communication deficits and repetitive behaviour). Another change is a ‘severity’ criterion that is designed to better capture the ‘spectrum’ nature of the disorder: level 3 (very substantial support), level 2 (substantial support) and level 1 (some support).
ASDs are common, with the latest Australian data putting the incidence at 1 in 160 children.15 While autism diagnoses are much more common in recent decades compared to previously (it was first described as a disorder only in 1944), whether there has been a true increase in incidence is unknown, as increasing awareness and widened diagnostic criteria make comparison with previous prevalence data unreliable.
When an autism spectrum disorder (ASD) is suspected, a GP is likely to face one of three different scenarios:
A family member presents with his or her own concerns about their child’s development.
A family member reports that a third party, such as a child-care worker or teacher, has expressed concerns about their child’s development.
The GP himself/herself identifies concerns with a child’s social and language development through routine developmental screening or general observation.
Scenario A should always be taken seriously, as the concerns of parents are commonly justified. Many parents present to their GP during the second to third year of their child’s life when it becomes apparent that the child’s development has stalled compared with his or her peers. While social deficits of ASD (such as delayed or absent joint attention—see below) often present earlier, they frequently go unrecognised by parents and it is usually speech delay that prompts a visit to the doctor.
Other parents may request a hearing assessment, thinking their child is deaf because he or she doesn’t respond to their name. In about 25–30% of cases there may be actual regression, with the child beginning to say words but stopping, commonly between the ages of 15 and 24 months. Parents may also report loss of eye contact and gestures such as waving or pointing.
A typically developing child should smile in response to a familiar caregiver’s smile or ‘baby talk’ by 2–4 months. At 8 months, an infant will follow a parent’s gaze, that is, look in the same direction as the parent is looking. Children should be able to follow their parent’s point by 10–12 months and start pointing themselves by 12–14 months. They then begin to point to share (‘look at this’) by 16 months. As they point, children will look back and forth between the object and their parent—it’s the shared social experience, not the tangible object, the child seeks. These joint attention behaviours are often absent or reduced in a child with ASD.
Younger children with ASD often appear to have little desire to connect with others. They may have problems imitating actions (such as clapping). As they get older, individuals may have difficulty understanding the perspective of others, commonly called theory-of-mind, which in turn leads to difficulties with empathy and sharing. Affected children will often have few or no friends; higher-functioning children may desire friendship but approach peers in an inappropriate way. Inappropriate social behaviours (e.g. commenting loudly on someone’s physical appearance) can lead to problems at school. Frequently, individuals become overwhelmed by social or sensory stimulation, such as loud sounds.
Communication deficits in ASD include deficits in both non-verbal and verbal communication, and expressive and receptive language. Some individuals remain mute throughout life. Although present, language may not be functional—children may be able to rote learn shapes and numbers, but not follow one-step commands. Stereotyped and repetitive language, including echolalia (‘parroting’ of learned phrases or scripts) is common. Other signs include unusual vocal qualities, such as tone or speed, and pronoun reversal (e.g. saying ‘you’ instead of ‘I’).
Affected individuals frequently have a very concrete and literal understanding of language, such as not understanding idioms, lies or jokes, and miss social cues such as body language and tone of voice. Even relatively mildly affected children (and adults) may have difficulty initiating and sustaining two-way conversations.
Children with ASD tend not to play imaginatively (e.g. pushing the car along and saying ‘brrm’) and instead will engage in unusual repetitive play, such as lining up toys, or spinning the wheels of a car. They frequently show little interest in social play (e.g. peek-a-boo or pattycake) and their play is often object-focused (e.g. computer games) rather than people-focused.
The following red flags16 are absolute indications for referral for an autism-specific assessment:
Red flags for autism
Lack of babbling, gesturing or pointing by 12 months
No sharing of interest in objects or activities with another person
No single words by 16 months, or no two-word (non-echoed) phrases by 24 months
Any loss of language or social skills at any age
A GP-friendly screening tool for ASD is the Checklist for Autism in Toddlers (CHAT)—abbreviated version (see TABLE 94.2).17 This can be administered at approximately 18 months of age and takes only a couple of minutes.
Table 94.2Checklist for Autism in Toddlers (CHAT)—abbreviated version ||Download (.pdf) Table 94.2 Checklist for Autism in Toddlers (CHAT)—abbreviated version
|Section A: Ask the parent ||Section B: GP’s observation |
|1 Does your child ever pretend, for example, to make a cup of tea using a toy cup and teapot, or pretend to do other things? ||Get the child’s attention, then give the child a miniature toy cup and teapot and say, ‘Can you make a cup of tea?’ Does the child pretend to pour out tea, drink it, etc.? (If you can elicit an example of pretending in some other game, score a YES for this item.) |
|2 Does your child ever use his/her index finger to point, to ask for something? ||Get the child’s attention, then point across the room at an interesting object and say ‘Oh look! There’s a (name of toy)!’ Watch the child’s face. Does the child look across to see what you are pointing at? (To record a YES for this item, ensure the child has not simply looked at your hand, but has actually looked at the object at which you are pointing.) |
| ||Say to the child, ‘Where’s the light?’, or ‘Show me the light’. Does the child point with his or her index finger at the light? (If the child does not understand ‘light’, repeat this with ‘Where’s the teddy?’ or other unreachable object.) (To record a YES for this item, the child must have looked up at your face around the time of pointing. |
If a child fails all three items, referral is indicated, as the chances of autism are high. If a child fails only 1 or 2 items, still refer as the chances of developmental delay are high.
If there are concerns that a child may have ASD, it is essential that the child is promptly referred to a general or developmental paediatrician, or to a developmental assessment unit, for an autism-specific diagnostic assessment. Taking a ‘wait and see’ approach, or saying ‘come back in 6 months and we’ll reassess’, is not acceptable. Getting hearing checked or assessments from speech therapists, occupational therapists (OTs) or psychologists may also be done in this work-up phase.
Intensive early intervention for ASD, which is what guidelines18 recommend as gold standard and does improve long-term outcomes, involves intensive and often expensive behavioural/developmental therapies, and the earlier it commences the better. However, this type of therapy may be beyond the organisational and financial capability of the family, so care should be taken in what is recommended. Parents should be directed to reliable information sources17,18 on these options, which they may find daunting. There is also a lot of misinformation on autism, particularly regarding complementary and alternative therapies, for which there is no evidence of efficacy.18 State-based autism associations can also help with advice. If the waiting times for diagnostic assessment are long (as is often the case), families should be referred to early intervention services while they wait.
The role of the GP in management
A child being diagnosed with ASD can have a massive impact on the family. GPs should monitor how family members are coping, and provide a ‘medical home’ for reliable advice on management options. Children with autism also have particular vulnerability to certain medical issues, and the GP will be involved in the management of these. These include:
minor traumas and injuries
restricted diet (due to sensory issues or special diets used by some families)
constipation (due to sensory issues causing voluntary faecal retention, or from medications used for co-diagnoses)
dental issues (sensory issues making brushing difficult, or grinding)
When consulting children with autism, special tactics can be employed to help things run smoother. Alerting front desk staff so they are aware of potential behavioural issues, allowing easier access for families in stress (e.g. calling the patient from the car if behaviour in the waiting room is problematic) and reassuring parents that challenging behaviour by the child is not an issue will help. The decreased eye contact and interaction means that the GP needs to work harder to engage these children, but it can be done, and parents will appreciate any effort made. Adjusting for sensory issues, for example, letting children hold and examine equipment before it is used, can also help.
Dyspraxia (from the Greek, meaning ‘disorder of practising’) is a disorder of the planning, organising and carrying out of motor tasks. It can affect articulation and speech, perception and thought, though it is not associated with decreased intelligence. It can vary from difficulties with simple motor movements, such as waving goodbye or clapping, to more complex issues such as handwriting or riding a bike. It is more common in males. Another term that is used is developmental coordination disorder (DCD).
If there is an issue with motor skills being delayed (without associated social and communication delay beyond motor skills) then referral to physiotherapists, occupational therapists and speech therapists, depending on the type of motor issues involved, is advisable. A delay in fine and gross motor skills can become a barrier to socialisation (e.g. not being able to play or perform in team sports) or academic achievement (e.g. writing) and can have flow-on effects on self-esteem and mood.
Specific learning disorders
A specific learning disorder (SLD) is characterised by persistent difficulties in reading, writing, arithmetic and mathematical reasoning skills during school years.13 The difficulties must result in abilities well below what is expected in culturally and linguistically appropriate testing. The learning issues should not be explained by other developmental, neurological, sensory (such as vision or hearing problems) or motor disorders and must significantly interfere with academic achievement, occupational performance, or activities of daily living. Dyslexia and dyscalculia are examples of SLDs.
Dyslexia (from the Greek, meaning ‘disorder of words’) is an SLD of reading and spelling, while still having otherwise normal learning abilities. The condition was originally called ‘word blindness’. Also referred to as developmental reading disorder, it is not a problem of comprehension, but of the speed and accuracy of decoding (converting letters and words to sounds) and spelling (converting sounds to their correct written symbols). It can run in families. Individuals with dyslexia can have different or compensatory learning styles, but may also be helped with input from an occupational therapist or speech therapist and a dyslexia clinic.
Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder (ADHD) is a disorder affecting attention, hyperactivity and impulse control.19 It can also affect children’s learning, social skills and family functioning. It is very common, affecting 3–5% of Australian children. It is much more common in boys. There are 3 types: predominantly hyperactive/impulsive; predominantly inattentive; and mixed, with the latter being the most common. To meet DSM-5 criteria, symptoms must be present before the age of 12, and often persist into adulthood.
Hyperactive/impulsive—6 out of 9 of the following:
often fidgets with hands or feet or squirms in a seat
often leaves seat in classroom or in other situations in which remaining seated is expected
often runs about or climbs excessively during inappropriate situations (in adolescents or adults, may be limited to subjective feelings of restlessness)
often has difficulty playing or engaging in leisure activities quietly
is often on the go
often talks excessively
often blurts out answers before questions have been completed
often has difficulty awaiting turn
often interrupts or intrudes on others (e.g. butts into conversations or games)
Inattentive—6 out of 9 of the following:
often fails to pay close attention to detail or makes careless mistakes in schoolwork, work or other activities
often has difficulty sustaining attention in tasks or play activities
often does not seem to listen when spoken to directly
often does not follow through on instructions and fails to finish schoolwork, chores or duties in the workplace (not due to oppositional behaviour or failure to understand instructions)
often has difficulty organising tasks and activities
often avoids, dislikes or is reluctant to engage in tasks that require sustained mental effort (such as schoolwork or homework)
often loses things necessary for tasks or activities
is often easily distracted by extraneous stimuli
is often forgetful in daily activities
Mixed—meets both hyperactive/impulsive and inattentive criteria.
While most young children have short attention spans and are impulsive, children who meet the above criteria will stand out, and the symptoms should be displayed in more than one environment (e.g. home and school). The issue is usually raised by the parents to the GP, and a query may have been raised by an early childhood worker or teacher. Symptoms often become apparent when the child starts school, or as academic expectations start to rise around age 7–8 years. The diagnosis should be made only by appropriately experienced psychologists, paediatricians or child psychiatrists, and will require information gathered from parents, teachers or other important adults in the child’s life.19
Children with ADHD often find their condition distressing and demoralising, and need support and understanding from family and teachers. Behavioural strategies (see TABLE 94.3) should be offered to all children, even those who do not strictly meet the diagnostic criteria but have these types of behaviours. Individual or family counselling should be considered.
Table 94.3Behavioural strategies for ADHD20 ||Download (.pdf) Table 94.3 Behavioural strategies for ADHD20
|Verbal instructions || |
Keep brief and clear
State name or tap on shoulder before giving instructions
Keep eye contact
|Written work || |
Use *asterisks*, UPPER CASE, or bold layout techniques
|Other learning strategies || |
Use one-on-one teaching where possible
Use class ‘buddies’ to help
Use activities with ‘hands-on’ involvement
Most important learning is done when concentrating best (usually morning)
Sit front and centre in class, not near friends
Homework done in clutter-free environment (no distractions, no unnecessary screens nearby or available)
Organised bag, organised diary, organised desk, organised locker
Regular scheduled homework time
|Reduce overactivity/fatigue || |
Regular rest breaks
Physically active breaks (e.g. delivering notes, taking lunch orders)
|Keeping structure || |
Activities predictable (home and school)
Display schedules and rules (home and school, in multiple places)
Tell about changes to activities/schedules/rules in advance
Use countdowns (e.g. 5-minute warnings)
Keep choices to a minimum
|Self-esteem || |
Set up for success (i.e. achievable goals)
Acknowledge achievements (by written and verbal means) and regularly review achievements
Ensure participation in classroom and positive feedback for effort
Address any specific learning difficulties promptly
|Social skills || |
Expose to small groups rather than large
Reward appropriate social behaviour (e.g. sharing)
Teach problem-solving skills when provoked
Encourage ‘supervised socialisation’ (e.g. sport, Scouts/Girl Guides)
Regularly discuss consequences of his or her actions
Use visual prompts to think before acting (e.g. STOP, THINK, DO)
|Communication between home and school || |
Have formal communication portal (e.g. diary, online parent forum) and use regularly
Communicate positive and negative behaviours
Stimulants are the single most effective treatment for ADHD, and became the standard treatment in the 1980s. Controversy remains in the media, and the public are often wary, with concerns about addiction and other safety issues often raised by parents, but these fears are unfounded. While there are potential side effects, these are mostly not serious. Stimulants are often useful, and 1–2% of Australian children are put on them at some stage. Parents (and children) will frequently report a positive experience, reflecting that their previous concerns were unfounded. Eight out of ten children will find a significant improvement in their concentration, impulse control and overactivity.
Medications (4 years and older: as a rule, avoid stimulants under 4 years):
methylphenidate (Ritalin, short acting, effect duration 3–4 hours); therapy should be started with this immediate-acting preparation
slow-release methylphenidate (Ritalin LA 6–8 hours, Concerta 10 hours)
Issues related to medication
Can normally be prescribed only by paediatricians, child psychiatrists or neurologists
Mechanism of action—increases noradrenalin and/or dopamine at the synapse
Common side effects:
– decreased appetite
– poor weight gain
Uncommon side effects:
Slight growth stunting (rarely a problem clinically)
Slight increase in heart rate/blood pressure (not an issue unless underlying cardiac issues)
Sometimes suggested for ADHD, but research is unclear about existence of and/or extent of benefit
Contains high amounts of omega-3 fatty acids
May help improve symptoms in some children
Oppositional defiant disorder
Oppositional defiant disorder (ODD) is defined as an ongoing pattern of anger-guided disobedience and hostile and defiant behaviour towards authority figures that goes beyond the bounds of normal childhood behavior.13 In the DSM-5, symptoms are grouped into three types: angry/irritable mood, argumentative/defiant behaviour and vindictiveness, reflecting the disorder having emotional and behavioural symptomatology. While such behaviours are common in early childhood, ODD should be considered when they are consistently displayed, and are impacting the family and the child’s social and educational functioning.
ODD is common (with an incidence estimated at 5–10%)22 and often undiagnosed, and has a large incidence of co-diagnosis with ADHD, with many of the symptoms crossing over between the two conditions. The onset is usually gradual, becoming evident before the age of 8. Children with ODD have a higher incidence of child abuse, school dropout and long-term mental health problems. ODD is caused by a combination of difficult temperament traits (see earlier in this chapter) and environmental factors, such as poor attachment, parenting styles or family conflict/mental health issues in parents.
improve positive parenting skills
enhance skills in problem-solving, conflict resolution and communication
There is strong evidence that psychological strategies and interventions reduce the impact of ODD on the child and family, and the earlier the better. They can also prevent progression to more serious disorders13 such as:
Disruptive mood dysregulation disorder (DMDD)—characterised by severe and recurrent temper outbursts greatly out of proportion in intensity or duration to the situation >3/week for >12 months
Conduct disorder—where there is behaviour that violates the rights of others or societal norms, such as aggression directed towards people, animals or property, often with a callous manner and lack of empathy
Tics are sudden, rapid, recurrent involuntary vocalisations or movements usually appearing in bouts that wax and wane in intensity, frequency and type of tic. They include behaviours such as grunting, blinking, shrugging shoulders, humming, yelling out a word or phrase or clearing the throat. Tic disorders are classified into:13
Tourette syndrome—motor and vocal tics for >1 year
persistent motor or vocal tic disorder—motor or vocal tics for >1 year
provisional tic disorder—motor and/or vocal tics for <1 year
Characteristics of tic disorders:
average age of onset 5–6 years
average of 5 years from onset to diagnosis
associated with psychosocial distress and poor functioning
strong genetic component (first-degree relatives have 10–100-fold increased risk of tics)
associated with ADHD and OCD
can be simple (one muscle group) or complex
examples of complex tics (which are different from compulsions in OCD in that they are not cognitive, preplanned or anxiety reducing) include:
– copropraxia (making obscene gestures)
– echopraxia (copying others)
– wounding oneself
– echolalia (repeating others)
– palilalia (repeating oneself)
– coprolalia (uttering obscenities)
80% decrease in adolescence and adulthood to no longer be an impairment
20% do not decrease, and may increase
there is no treatment, other than psychosocial support and treating comorbidities