Role of the GP in detecting child development problems
GP Dr Stefan Cembrowicz asks consultant paediatrician
Dr Matthew Ellis about the range of commonly seen difficulties
ow common are developmental problems in children and how are they usually picked up?
There is a wide range of developmental disorders ranging from the relatively common, simple language delay, which we see in up to a quarter of boys, to the extremely rare, such as neurological degenerative diseases, which may present once in a GP's lifetime.
Many of these were picked up by child health surveillance. Although evidence showing the benefit of child health surveillance is difficult to establish I think we'll only realise its worth once it's gone! GPs will now have to rely on their clinical skills in unrelated consultations to pick up problems hitherto identified at routine checks.
What sort of conditions might you expect to pick up at the first baby check?
First, gross motor problems, broadly the cerebral palsies, and second visual difficulties. These are relatively rare one or two per 1,000. Clues are in the qualitative behaviour of the child, whether visual or the way he moves.
I saw a child recently who wasn't fixing or following at six weeks, who turned out to be congenitally blind. Many cerebral palsy children are born prematurely and will present to neonatologists, but around half will be term infants in whom the only clue might be how they move one side of the body at the six- to eight-week check.
What is the relationship between premature birth and difficulties such as cerebral palsy?
The cerebral palsy rate appears constant over the latter half of the 20th century, despite huge improvements in obstetrics and perinatal care. Since the advent of neonatal intensive care, an increasing proportion of cerebral palsy children are graduates from these centres. CNS damage, typically to the white matter, occurs silently despite optimal special care. Mechanisms are still unclear. This accounts for half of all cerebral palsy.
The other half is a very heterogeneous group, including genetically determined disorders such as the neuronal migration disorders.
More recently we're recognising cerebrovascular disorders which result in hemiplegia due to third trimester infarcts in susceptible families.
The very premature survivors, in contrast, typically have a diplegic pattern, affecting the lower limbs. This relates to how the white matter comes down past the ventricles. The peri-ventricular area, which appears to be most susceptible to damage, is where the legs of the motor homunculus project through.
What are the latest developments in management of a child with cerebral palsy?
The big step forward has been botulinum toxin. This reduces secondary spasticity, which causes many of the physical problems. Physiotherapy remains the mainstay, largely dependent on the family for application. The disbanding of special schools and the philosophy of inclusion is having a profound impact.
Indeed, many barriers to participation are socially determined. Advocacy and campaigning by disability pressure groups has had a significant effect on outcomes.
To what extent is cerebral palsy the sole cause of a child's impairment?
In a significant sub-group, motor impairment is an isolated problem, particularly with hemiplegic children. However, we do see children with multiple impairments. In the worst cases these include cortical, visual and hearing deficits, learning difficulties and epilepsy.
Families with such a child will see an enormous range of professionals. Half the problem is co-ordinating care. Today's approach is the concept of a team around the child, and having a
co-ordinator can significantly improve the experience for the family. This key worker can also support the family and be their advocate, though the two roles don't necessarily fit together easily.
What other developmental problems may GPs encounter in the growing child?
In the second year of life communication disorders present. Simple speech delays are extremely common. There is a very broad normal distribution of the age at which we acquire language, and 25 per cent of the male population is more than one year behind the mean. Devoting speech and language therapy resources to this group of children simply clogs up the system to nobody's benefit.
However, language disorders must be very clearly distinguished. First and foremost are the autistic spectrum disorders, in which one sees the characteristic triad of not only difficulties with spoken language, but with social reciprocity and impoverished ritualised behaviour patterns.
At what age do parents start to notice something wrong with children in the autistic spectrum?
The peak age of presentation is 18 months, which explains the MMR neurosis. This is around the age when the child manifests the higher cognitive functions for social communication.
What are the current clues to the causes of autistic spectrum disorders?
Like cerebral palsy, autistic spectrum disorders are a final common pathway, with different aetiological groups. Children who had multiple placements in their first months of life for adoption and fostering, as well as the Romanian orphans, show autistic spectrum-like behaviour. However, in the majority of autistic spectrum children there is a strong genetic propensity, and in some rare sibling groups genetic mutations have been identified. What we do know is that loving parents cannot inadvertently make their children autistic.
The diagnosis of Asperger's syndrome seems to be used more these days: to what extent is it valid and how can these children be helped?
An excellent review on the MRC website (www.mrc.ac.uk) concludes that
sub-groups on the spectrum are not robust phenomena, and that individuals can change over time in their positioning on the spectrum. However, it is still common to refer to the milder end of the spectrum as Asperger's. People who have grown up with the diagnosis report it to have been helpful as it explained some of their social difficulties, while exonerating them from blame. However, there does appear to be a regrettable tendency at present to overuse the label.
How are hearing disorders now detected?
Distraction testing produced a very high false positive rate. The new neonatal universal screening system offers much earlier identification. Results from cochlear implant programmes are hugely encouraging. Implants are going in during the second year of life and the main limiting factor appears to be the size of the prosthesis. Early implementation enables the child to acquire language during the sensitive period.
How early may attention deficit hyperactivity disorder be recognised in childhood?
Parents of toddlers report hyperactivity, but in these early years it is extremely difficult and probably ill-advised to distinguish between normal exuberance and significant difficulties of attention, impulsivity and hyperactivity. NICE guidelines refer to the use of medication in six-year-olds and above. Most paediatricians are extremely wary of prescribing medication in the pre-school years. The NICE review suggests up to
2 per cent of school-age children may benefit from methylphenidate.
Are dietary factors relevant?
The food intolerance literature is for me less than compelling. There are some substances that undoubtedly have a stimulant effect, such as caffeine, tartrazine and monosodium glutamate which it's sensible to avoid. Occasionally one meets families who have rigorously assessed the relationship between problem behaviour and a particular food. More commonly, wild claims are asserted with little evidence.
How are learning difficulties detected?
These are still defined using intelligence tests; nevertheless they are the best guide. Children with a score below 70 fall within the mild/moderate group; those below 35 have profound learning difficulties. The mild/moderate group present with developmental delay, typically in the second year of life.
If you estimate their developmental quotient, this is predictive of IQ. Thus a four-year-old behaving like a two-year-old has a developmental quotient of 50 per cent, which would predict an eventual IQ of 50.
Role of the GP in detecting child development problems
child development problems
The Peto method
What did it involve, compared with how a child would be treated in this country?
The Peto Institute adopted an approach now known as conductive education in which carers became more involved as developmental facilitators. Large-scale drills were repeated to achieve the desired result. This had the benefits of repetition, strong social conditioning and mutual support for parents. In the UK before this there was much less emphasis on families as facilitators, and widespread institutionalisation of disabled children.
Probably the biggest thing we've adopted from Peto is a much greater emphasis on parents as therapists, supported by professionals. Probably the least helpful aspect was the focusing on specific crude skills, which without a holistic programme tended to lead to artificial victories.