Category Archives: Community

Fragile X

Cause of developmental delay.

FMR1 gene is on X chromosome, obviously, and is a trinucleotide repeat disorder (along with Friedrich’s ataxia, myotonic dystrophy, Huntington disease etc), so inheritance is interesting.

Dads can carry gene, but only pass it on to their daughters (who will all get it).

Mums will carry gene on 1 chromosome, so sons and daughters can both get it, but 50:50 chance.

As with other trinucleotide repeat disorders, gene expands with each generation, so risk of disease increases from 1 generation to the next, and this is somewhat predictable: intermediate gene (so 45-54 copies) won’t expand to cause disease (200+ copies) in 1 generation, but premutation gene (55-199) copies probably will.


  • Moderately severe learning disability
  • Facial features – long face, midface hypoplasia, large lips and jaw, small ears
  • Macro-orchidism

Females less severely affected, of course.

Screen time

Sedentary time spent in front of screens programs metabolism and brain neurochem.  Similar to addiction.

But it’s complicated! Partly because there are so many different kinds of activity that can now be done with mobile phones and tablets, and because it’s difficult to control or randomize.

How people interact with screens is changing too. In the mid-2000s in the US, children over 8 spent an average of 6.43 hours a day on electronic media, but this was mainly watching TV.  Evidence of stress response (reduced cortisol increase) on waking after using screens for average 3 hours a day.

But now mobile devices are the centre piece of young people’s social lives.  Boys tend to spend more time gaming, girls more time on social networking.

Effect of high levels of screen time does not seem to be attenuated by equivalent exercise.

High levels of screen time (over 4 hours daily) is associated with poorer school performance. Social skills are poorer. These children tend to form cliques with shared interest, that create further social isolation.

Violent games and media are associated with aggression in children as young as pre-school. Aggression in children can be manifest physically, or verbally, or relationally (ignoring, excluding, spreading rumours). There is also significantly more hostile attribution bias, where you interpret behaviour (such as not being invited to a party) as hostile, even when it is not, or at least ambiguous.

Parental involvement matters – how frequently parents watch TV with their children, discuss content with them, and set limits on time spent playing video games.

Exposure to media violence must also be seen within a risks/resilience approach. [Gentile and Coyne, Aggressive Behaviour 2010] ]

Some evidence that some “social” games themed around cooperation and construction eg Animal crossing have benefits. Similarly, links between media and relational violence pretty weak, but that could be because relational violence content isn’t really examined! Actual content probably more important than time spent playing. Note that in that study of Animal Crossing, background mental health problems seemed to reduce benefit.


Getting it right for every child. A framework for dealing with children and young people, looking at a range of values (SHANARRI).

Children and Young People (Scotland) Act 2014 made provision for Named Person and Child’s plan, but after review in 2019, amid privacy concerns (brought by Christian Institute, among others), government decided not to pursue legislation. Supreme court found that “duty to share information”, although well intentioned, was potentially at odds with article 8 of European convention on Human rights (“Privacy and family life”).



Product of amino acid metabolism.

In developmental delay, an abnormally high or low result is significant viz:

  • Glycogen Storage disorder
  • Purine disorders eg Lesch Nyhan
  • Molybdenum Cofactor deficiency – other features are microcephaly, hyperekplexia

High urate levels can also be risk factor for urolithiasis (stones in urinary tract)

Attention deficit hyperactivity disorder

6 of symptoms of inattention or hyperactivity:

    • having a short attention span and being easily distracted
    • making careless mistakes – for example, in schoolwork
    • appearing forgetful or losing things
    • being unable to stick at tasks that are tedious or time-consuming
    • appearing to be unable to listen to or carry out instructions
    • constantly changing activity or task
    • having difficulty organising tasks
    • being unable to sit still, especially in calm or quiet surroundings
    • constantly fidgeting
    • being unable to concentrate on tasks
    • excessive physical movement
    • excessive talking
    • being unable to wait their turn
    • acting without thinking
    • interrupting conversations
    • little or no sense of danger

Needs to be persistent, and in more than just 1 situation (eg home vs school), where no other diagnosis more appropriate, and where it has significant impact on social, academic (or later occupational) life.

Autistic Spectrum Disorder

ICD-10 defines autism spectrum disorder as

  • persistent difficulties with social communication and social interaction, and
  • restricted and repetitive patterns of behaviours, activities or interests (this includes sensory behaviour),
  • present since early childhood,
  • to the extent that these limit and impair everyday functioning

Sensory behaviour may be meltdown or withdrawal or other challenging behaviour when too much information or sensation is experienced.  There can be hyper (or hypo) sensitivity to lighting, problems with depth perception, noises or crowds, smells (or licking), pain, taste/textures.

SIGN guidance is that (145):

  • children under 3 with regression in language or social skills should be referred
  • not to screen population
  • that screening instruments are not 100% reliable but have their uses
  • that ASD should be considered in any child with developmental, emotional, psychiatric or behaviour issues, or a genetic syndrome
  • in preschool children typical features may be absent
  • gender differences are important in terms of symptoms and level of impairment


  • Lack of shared attention (or late development) eg pointing
  • repetitive behaviour/play
  • resistance to change
  • violent or self injurious behaviour, pica


  • Aspergers – social difficulties in absence of learning or communication problems
  • Pathological demand avoidance – where underlying problem is high level of anxiety about conforming to social demands or not being in control


ARCH, REACH and National Autistic Society


Poor sleep associated with hyperactivity, obesity, poor school performance, depression.  And affects parents, of course!  Caffeine and Propranolol (as used for migraine prophylaxis) affect sleep!

Normal sleep

REM (rapid eye movement) phase is light sleep. Usually in later part of night after deep sleep.  Slow wave (deep) sleep is associated with increased anabolic hormone release, mitotic repair. Higher proportion of sleep in adolescence is slow wave.  60% of newborn sleep is REM.

Recommended sleep duration: 8-11hrs by age 11. Increases in adolescence!

Late insomnia (early morning waking) in depression. Cf early – mood disorders, anxiety (cortisol vs melatonin).

30 mins high intensity exercise is as good as melatonin. But ideally 3hrs before bed time!?

Sleep latency 19 min under 2yrs, 17-19 mins thereafter.

Night wakenings are normal! But parental response varies!

Excessive sweating seen in 11% of children, so considered normal. But beware weight loss, lethargy!  Can also be associated with obstructive sleep apnoea.

Sleep problems

For infants not going to sleep, options are extinction vs gradual retreat. Not appropriate for under 6/12 of age as may affect bonding. No adverse effects otherwise.

Melatonin does not increase total sleep time! Helps prepare brain for sleep – does not induce sleep, as such.  Earlier waking as well!

Nocturnal seizures – stereotyped, multiple in one night, sudden stop and start, mostly after first third of sleep.  Seen in BECTS.

Restless legs associated with iron deficiency!

Benign nocturnal leg pain common in children.

Teenagers generally do have different body clock, but not helped by major changes in bed/wake times at the weekend. Blue light from screens suppresses natural melatonin production besides distraction.

For autism – Right click online support programme for general info including sleep. Hope for autism do not need diagnosis, others do. Waiting times? Arch, Reach websites.

CAMHS won’t prescribe melatonin but do prescribe methylphenidate!?

Bio melatonin 3x the price, not approved by SMC. 

Circadin should be replaced by generic MR melatonin


In early part of night, likely to be non REM, cf later in night.

Classic non REM =

  • Confusional arousal – can appear fully awake but don’t make much sense, no recollection in morning.
  • Sleep walking – quite complex behaviours possible (riding a motorcycle!)
  • Sleep terror – worse for partner/parents, as rarely remembered

REM related =

  • REM sleep behaviour disorder – typically violent, dream can often be remembered, can escalate. Can be sexual.
  • Sleep paralysis – up to several minutes, usually terrifying (“like being dead”), often with hallucinations.

Beware Narcolepsy – poor sleep quality at night, then daytime somnolence, plus hypnagogic/hypnapompic hallucinations, sleep paralysis, cataplexy (laughing causes collapse). Genetic, treatable with stimulants.


Non-accidental injury – fractures

Abuse should be considered if:

  • multiple fractures
  • rib fractures (7 in 10 NAI)
  • femoral fracture (see below)
  • Under 3 with humeral fracture (1 in 2 NAI)
  • Mid shaft humeral fracture more frequently NAI, supracondylar less frequently
  • Infant/toddler skull fracture (1 in 3 NAI).  Type and location not helpful

Formerly known as CORE Info, the RCPCH Child Protection Portal hosted on the RCPCH website provides evidence-based guidance for health professionals concerned about non-accidental injury 

  • Fractures in the abuse group occurred predominantly in children less than 1 year of age.
  • Femoral fractures under 1 year of age are significantly associated with abuse.
  • One-third of isolated femoral fractures under 3 years of age were abusive.
  • Abusive femoral fractures occur predominantly in infants (evidence level IIb) [3].
  • Significantly more abusive femoral fractures arise in children who are not yet walking (evidence level IIb) [3].
  • Mid-shaft fractures are the most common fracture in both abuse and non-abuse groups (analysed for all age groups) (evidence level IIa) [3].
  • Under 15 months of age, a spiral fracture is the most common type of abusive femoral fracture p=0.05 (evidence level IIb) 

2014 Systematic review on bites has been withdrawn pending new review – interim advice on RCPCH child protection portal but need to be member.

Rib fractures with callus are at least 2 weeks old.  Other than that, unable to date.

Systematic reviews of various NAI issues at

Dyspraxia, or Developmental Coordination Disorder (DCD)

Developmental Co- ordination Disorder (DCD), as outlined in DSM IV (American Psychiatric Association 1994):

  • Performance in daily living activities that required motor co-ordination is substantially below that expected given the person’s chronological age and measured intelligence. This may be manifested in delays in achieving motor milestones (i.e. walking, crawling, sitting) dropping things, ‘clumsiness’.  Significantly interferes with academic achievement or activities of daily living.
  • The disturbance is not due to a general medical condition (e.g. Cerebral Palsy, Hemiplegia or Muscular Dystrophy), and does not meet the criteria for a pervasive Developmental disorder.
  • If Global Learning Difficulties are present the motor difficulties are in excess of those associated with it.

It is essential that early referral is made in order that children do not develop behavioural difficulties due to their frustration at not being able to carry out the same tasks as their peers.

Clues are:

  • Does the child’s motor skill appear to be behind their cognitive skills?
  • Dose the child appear to move generally in an uncoordinated way i.e. walking, running, manoeuvring around objects?
  • Does the child fall over constantly, bump into things, and /or knock thing over?
  • Has the child developed a dominant hand i.e. does he/she prefer to use one hand for more tasks?
  • Does the child have difficulties with dressing especially organising themselves? Do they find laces, small fastening and cutlery difficult?
  • What is their attention span like? Are they always fidgeting or squirming?
  • Are they having significant difficulties in the classroom in relation to their peer e.g. poor behaviour, avoidance of tasks, poor handwriting, dislikes gym?

N.B  Most children in their early school years will demonstrate one (or more) of these areas of difficulty but this does not mean they all have DCD!  Children with DCD will present with many of the difficulties above for a prolonged period.

Attention Deficit & Hyperactivity Disorder

ADHD defined as at least 6 months of

  • Inattention,
  • Hyperactivity,
  • Impulsivity.

ICD requires all 3, DSM requires just 1.


  • social and/or academic difficulties not explained by anxiety or depression,
  • child should be under 7 yrs.

DSM does not give guidance on assessing severity. UK guidelines do not mention mild ADHD.

Commonly associated with peer rejection, increased risk of injury. Long term, less likely to enter higher education or find employment, more likely to have delinquent/criminal behaviour, more likely to smoke, use alcohol and illegal drugs.

There is high concordance for monozygotic twins, which supports a genetic cause. There are also MRI/PET lesions, which support a physical cause (cortical abnormalities in the frontal, temporal, and parietal lobes, Lancet 2003). It is 3 times more common in boys. It may be related to traumatic experience in infancy.

There are rating scales eg Conner’s ADHD index, which is 94% sensitive.

Examples of inattention:

  • Careless mistakes
  • Does not seem to listen when spoken to directly
  • Does not follow through instructions (NOT simply oppositional)
  • Avoids sustained mental effort
  • Loses things necessary for tasks/activites

Examples of hyperactivity/impulsivity:

  • Fidgets, squirms, leaves seat when expected to remain
  • Runs about, climbs in appropriate situations
  • Acts as if “driven by a motor”
  • Blurts out answers before question finished
  • Interrupts, intrudes on others

There should be impairments in at least 2 settings eg school and home.


Parent training programmes are effective for preschool children.

Methylphenidate, a dopamine agonist, is effective, esp for concentration, hyperkinesis and impulsiveness. Clonidine has been suggested.

Behaviour modification (NOT cognitive behavioural) is effective for age 6yr+ only when combined with medication.

Hyperactivity tends to improve over time, but there are associated antisocial behaviours and learning difficulties long term. The longest trial showed better performance up to 8yrs after entry (compared with baseline), but still underperforming compared with peers.

A diagnosis can help parents but also carries stigma: children with ADHD are perceived as lazier and less clever by peers, and teachers/parents have lower academic expectations.

BMJ 2013;347:18a