Category Archives: Community

Prader Willi syndrome

Clinical, Community, General paediatrics, Genetics, Neurology, Nutrition, OPD

Chromosome 15q11 related. Results from deletion of paternal copy of imprinted gene (the rare genes where the copy from one parent is turned off by DNA methylation). See also Angelman syndrome (also chromosome 15).

Beware pregnancies with Trisomy 15 where subsequent testing looks like normal diploid…

Classically severe hypotonia at birth, often with mild growth restriction, causing significant feeding difficulties.

Facial appearance characteristic even at birth: high forehead, narrow bifrontal diameter, downturned corners of the mouth, micrognathia, and dysplastic ears. As they age, almond eyes become apparent, face is rather unexpressive of course. Hands are small.

After age 1, ironically, appetite then seems to surge, leading to obesity.

Scottish genomic test directory says test if:

  • Severe hypotonia and/or feeding difficulties in early infancy;
  • Global developmental delay;
  • Hypogonadism;
  • Excessive eating with central obesity if uncontrolled in childhood

ARFID

Community, General paediatrics, Nutrition, OPD, Psychology

=Avoidant restrictive food intake disorder.

Extreme fussy eating, low appetite, slow eating, rigid eating behaviours eg brand-specific or position of food on plate. Often related to sensory issues (texture, colour, temperature) but also anxiety about potential choking or vomiting (emetophobia). But often food/eating is the only issue.

BPSU study 2024 described 300 cases across the UK. Slightly more boys than girls, 71% white. Comorbidity (anxiety and autism spectrum disorder) common.

Case definition from BPSU was:

  • Nutritional deficiency that requires additional clinical investigation or treatment (e.g., anaemia, micronutrient deficiency, weight loss or poor growth, not fully accounted for by poverty or neglect, cultural practice or an existing medical condition or another mental disorder
  • AND/OR Interference with day-to-day functioning due to eating behaviour
  • Not explained by ANY of the following:
    • Lack of available food (e.g., from poverty, famine, or neglect)
    • Culturally sanctioned practice (e.g., endorsed religious and cultural practice)
    • Other known diagnosis e.g., Allergy, Constipation, Swallowing difficulties, anorexia/bulimia

If known medical/mental disorder, the severity of eating disturbance should exceed that routinely associated with the particular condition/disorder.

In practice, consider where:

  • Weight for age or weight for height <2SDs below median
  • Absence of entire food groups from diet
  • Reliance on nutritional supplementation
  • Extreme/frequent distress about eating
  • Unable to eat at school, with peers, or out of home

Fetal alcohol syndrome

Cardiology, Clinical, Community

Salford study in 2021 found 1.8% rate in school (3.6% including possible cases) when actively sought – none of whom had previously diagnosed developmental problem. Estimated 2-4% in population.

Cognitive impairment, ADHD/impulsivity, visual/hearing impairments, physical complications.

SIGN guideline 156 (and now NICE).

Assess –

  • Alcohol exposure
  • Facial features (3 “sentinel” – small eyes, smooth philtrum, thin upper lip) – computer based tools available.
  • Brain pathology (growth ie OFC else scan)

Confirming alcohol exposure can be tricky – ED attendances? Blood alcohol levels? Police involvement? Using self completed form perhaps more reliable than saying face to face. Diagnosis can be made without good history if all 3 facial features present.

No safe limit for alcohol exposure in pregnancy. “When did you find out you were pregnant?”

Assess facial photo when NOT smiling! Other features are hirsutism, epicanthic folds, clown eyebrows, ptosis, flat nasal bridge.

Brain domains – need 3 or more. Neurodevelopmental and speech/language and sensory integration (occupational therapy) assessment. Only valid in school age children. So diagnosis in preschool only possible if microcephaly or similar.

Diagnosis is FASD +/- sentinel facial features, or “at risk” indeterminate (because too young to do proper assessment, for example).

Management

SPECIFIC parenting course developed in Salford.

National organisation for FASD has algorithms etc.

Fragile X

Community, General paediatrics, Genetics

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.

Features:

  • 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

Child protection, Community, General paediatrics, Mental health, OPD, Psychology, Sociology

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.

UK government advice 2026 is 1hr a day but pref less under 5 years, and under 2 only if joint watching/activity with adult.

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.

GIRFEC

Community, Ethics, General paediatrics

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”).

[https://www.gov.scot/publications/getting-right-child-practice-development-panel-report/]

Pica

Common, Community, General paediatrics, Neurology, Nutrition, OPD

Can be due to mineral deficiency or toxicity. But can become habitual, in which case motives/consequences should be explored – attention? Escape? Sensory feedback?

Usually iron deficiency, but potentially calcium, zinc. Beware vitamin deficiencies esp C. 

Lead exposure can come from toys sourced from outside EU.
Houses in area built before 1950? Water companies generally screen for this, houses are occasionally notified of a hazard. But lead poisoning can also be a consequence of pica.

Complications are rare but potential for bezoar formation, gastrointestinal side effects. Toxocariasis if faeces is ingested.

Management

  • Ignore or avoid negative attention (eye contact, facial expression, speech)
  • Other oral stimulation eg. chew wristbands
  • Reward keeping hands in pockets?
  • Teach edible vs. Non-edible
  • Alternative communications methods
  • Provide similar smells, textures, colours to play with or eat

Urate

Community, General paediatrics, Genetics, Metabolic, Neurology

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

Community, General paediatrics

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.