Genetic cause of short stature, often prenatal growth retardation too. Characteristic triangular face with relative macrocephaly.
Chromosome 11p15. But 10% due to maternal uniparental disomy 7.
Category Archives: Nutrition
Diet and mental health
Longitudinal research shows association between progressively higher glycaemic index diet and incidence of depressive symptoms. Experimental exposure to diets with high glycaemic load increases depressive symptoms in healthy volunteers, with moderately large effect.
Mechanism could be repeated and rapid changes in blood glucose, triggering counter regulatory hormones such as cortisol, adrenaline, growth hormone, glucagon.
Appears to be an inflammatory response to high glycaemic index foods too. Adherence to Mediterranean diet reduces markers. Mood disorders have been linked to heightened inflammation, although only in a minority. Observational studies show people with depression score higher for “dietary inflammation” viz trans fats, refined carbohydrates, lower intake of omega 3 fats. Mediated through polyphenols, polyunsaturated fatty acids?
Diet also affects microbiome, which interacts with the brain in bidirectional ways using neural, inflammatory and hormonal signalling pathways. High fibre, polyphenol, unsaturated fats promotes microbial taxa that generate anti-inflammatory metabolites such as short chain fatty acids.
Study of probiotics in healthy volunteers found altered response to a task that requires emotional attention, and may even reduce symptoms of depression.
But no benefit in large trial of Medierranean diet with subclinical depressive symptoms, only small trials of current depression showed benefit. Note context of people’s expectations regarding food/diet, which will likely have a marked effect on wellbeing.
Danger too of stigmatisation if trying to change an individual’s dietary choices.
[Joseph Firth, BMJ 2020;369:m2382]]
Enteral feeding
Freka PEG tube can only be removed orally. Good if v active, combative patient. But risk of mucosal burying, so weekly push and pull. Corflo can be removed by traction. Need replacing every 18 months.
Button preferred now, tube can be disconnected as required, replace every 12-18 months. 40% mortality at 5yrs post fundoplication where CP. 40% had no improvement in gagging symptoms. Only 1 in 8 need subsequent fundo if PEG only done first, so tend not to be done at same time.
Alternatives – jejunal tube via PEG (needs continuous feeds) or jejunal button (less retching but more tube problems eg blockage).
Jejunostomy via Roux en Y potentially primary procedure. Risk of volvulus.
Oesophagogastric disconnection – (Manchester) stomach detached from oesophagus, which gets plumbed on to Roux en Y instead.
Bridles for NG/NJ skin fixation issues.
Blended diet for growth issues, feeding tolerance issues, failed jejunal, to avoid fundoplication. Currently not done via NG/NJ.
Galactosaemia
Actually 3 different gene defects possible, most commonly Galactose-1-Phosphate uridyl transferase deficiency (GALT, or Gal-1-PUT). The others have different phenotypes.
Presents in the newborn period after initiation of milk feeding, most commonly with jaundice, which can be unconjugated in first week but becomes conjugated thereafter. The other features listed below are seen in only a minority:
- Vomiting,
- poor feeding
- Hypotonia
- Hepatomegaly
- Encephalopathy
- Cataract – can be present at birth, but more usually after a week or two.
- Sepsis – esp E coli septicaemia
Lab findings include hypoglycaemia, deranged LFTs, coagulopathy, metabolic acidosis, abnormal urine aminoacid excretion. Urine for reducing substances is not sensitive or specific. The definitive test is RBC Gal-1-PUT activity, but if a transfusion has been given alternatives are genotyping or testing the parents for carrier status.
Management is by diet. Nonetheless, neuropsych problems usually develop in adolescence and ovarian failure often occurs. Some debate about whether galactose can be tolerated from age 2-3yr.
Egg allergy
Common. Can be prevented by early introduction as part of weaning – see EAT study.
Reintroduction should not be attempted within 6 months of a significant reaction to egg. Children who have had only mild symptoms (only cutaneous symptoms) on significant exposure (e.g. a mouthful of scrambled eggs) with no ongoing asthma may have well-cooked egg (e.g. sponge cake) introduced from the age of about 2–3 years at home.
If this is tolerated then reintroduction of lightly cooked egg (e.g. scrambled) may be attempted from about 3–4 years. If there is a reaction at any stage, the previously tolerated diet should be continued and further escalation considered after 6 months.
Reintroduction at home should not be attempted if there have been significant gastrointestinal, respiratory or cardiovascular symptoms during previous reactions, only a trace amount has ever been ingested or there is ongoing asthma.
Remember vaccines esp influenza.
[BSACI guidance 2010]
Hydrolysed Formulas
Alternatives and variations on cow’s milk based formulas:
- Extensively hydrolysed – protein is broken down so good for cow’s milk protein allergy. Not very nice tasting! Can be whey-based eg Pepti (which includes lactose, so more palatable but no good for lactose intolerance), else casein-based eg Nutramigen.
- Partially hydrolysed – better tasting but symptoms may persist if true allergy
- Anti-reflux “stay down”
- Soya – good for cow’s milk protein allergy but cross reactivity can occur, plus theoretical phyto-oestrogen effect so avoid if under 6 months. But the only one you can use if you are vegan or have galactosaemia.
Aptamil Pepti is made by Milupa (which is where GP’s will find it on electronic prescribing system).
Nutramigen contains prebiotics – should therefore not be given to preterm babies (theoretical risk of gut translocation), and should be made up at room temperature (so not suitable for prep machines).
Vitamins
B6 – fish, potatoes, fruit, fortified breakfast cereal;
B12 – fish, meat, eggs, milk, fortified breakfast cereal, yeast extract (Marmite)
Folate (folic acid) – green leafy vegetables, oranges, wholegrain cereals, nuts and pulses
The GINI study
German study from 1998.
Some potential benefit from using hydrolyzed formula in terms of preventing allergy. The relative risk for the cumulative incidence of any allergic disease in the intention-to-treat analysis (n = 2252) was:
- 0.87 (95% CI, 0.77-0.99) for partially hydrolysed whey-based formula (pHF-W),
- 0.94 (95% CI, 0.83-1.07) for extensively hydrolysed whey-based formula (eHF-W) eg Pepti, and
- 0.83 (95% CI, 0.72-0.95) for extensively hydrolysed casein-based formula (eHF-C) eg Nutramigen compared with standard cow’s milk formula.
The corresponding figures for atopic eczema/dermatits (AD) were 0.82 (95% CI, 0.68-1.00), 0.91 (95% CI, 0.76-1.10), and 0.72 (95% CI, 0.58-0.88), respectively.
In the per-protocol analysis (ie where patients stuck to protocol) effects were stronger (0.49 for eczema at 1yr). The period prevalence of AD at 7 to 10 years was significantly reduced with eHF-C in this analysis, but there was no preventive effect on asthma or allergic rhinitis.
[J Allergy Clin Immunol. 2013 Jun;131(6):1565-73. doi: 10.1016/j.jaci.2013.01.006. ]
Cochrane review 2009 biased towards GINI data. Since then big Melbourne study (MACS) not in favour; per protocol analysis for eczema at age 1 yr did not show any benefit (0.55-1.93).
Even with GINI, NNT could be as high as 80!
[http://onlinelibrary.wiley.com/doi/10.1111/pai.12138/full]
15 yr follow up of GINI study – between 11 and 15 years,
- prevalence of asthma was reduced in the eHF‐C group compared to CMF (OR 0.49, 95% CI 0.26–0.89)
- cumulative incidence of atopic rhinitis was lower in eHF‐C (risk ratio (RR) 0.77, 95% CI 0.59–0.99]) and the AR prevalence lower in pHF‐W (OR 0.67, 95% CI 0.47–0.95) and eHF‐C (OR 0.59, 95% CI 0.41–0.84).
- cumulative incidence of eczema was reduced in pHF‐W (RR 0.75, 95% CI 0.59–0.96) and eHF‐C (RR 0.60, 95% CI 0.46–0.77), as was the eczema prevalence between 11 and 15 years in eHF‐C (OR 0.42, 95% CI0.23–0.79).
- No significant effects were found in the eHF‐W group on any manifestation,nor was there an effect on sensitization with any formula.
[Allergy 2016; 71: 210–219. http://onlinelibrary.wiley.com/doi/10.1111/all.12790/abstract]
Fussy eating
For extreme refusal
Things to avoid
- Do not refuse to give high-energy foods, like ice cream, cakes, biscuits and chocolate, in the hope that your child will eat ‘proper’ meals and ‘healthy’ foods.
Reason:This is not a good way to get your child to eat new foods, and your child might lose weight if you withhold their ‘safe’ foods. - Do not try to force your child to eat food.
Reason:This will make your child even more anxious at mealtimes, and may cause your child to vomit the food back up. - Leave long gaps between meals to try to make your child more hungry or hide new foods inside foods that your child already likes.
Reason: This will make your child less hungry over time, and may lead to weight loss. Some children can very easily detect new tastes and smells, even when hidden in other foods. Your toddler may just stop eating the liked foods.
Things that help
- Encourage your child to experience different textures through ‘messy’ play every day. Your toddler may find some textures (like Play-Doh) very difficult, so start with textures that they are happy to touch. This may need to be drier consistencies initially, such as rice or lentils. Gradually progress to more messy/wet substances, allowing your toddler to gain confidence. Have plenty of fun and get messy. If you don’t like touching certain textures yourself, or don’t feel comfortable allowing your toddler to make a mess, then why not take them to a playgroup in your area?
Reason: Many children who are extreme food refusers are very sensitive to touch on the hands and mouth, and so will not even pick up new foods. Messy play helps them to get used to new textures. - Give small frequent meals of foods that your child accepts.
Reason: Some children become very anxious at mealtimes and are sometimes very slow eaters. Small frequent meals will help them to take in the calories that they need. - Remember, even children who are extremely faddy eaters usually grow and develop normally, if they are given the foods that they will accept.
Reason:It is important to keep your child growing well, and these extreme food refusers do grow as we would expect them to if they have enough of the food that they will eat.
Growth Charts
Current charts are UK-WHO, which is to say a combination of UK growth cohorts with world wide cohorts. This is to correct for the low prevalence of breast feeding and high prevalence of obesity in the UK, and assumes that there is little genetic differences in growth.
Usage Tips
Between 37 and 42 get plotted as term. No centiles for first 2 weeks as dip expected. One in 5 still below birth weight at 2 weeks, only one in 50 will be 10% below or more. Still mainly well, but suggests feeding problem worthy of further assessment, and in a few there will be an otherwise occult pathological condition eg cardiac or metabolic disorder.
Preterms get plotted on both Preterm section of chart AND day 0! Because assessing early growth works best on day 0 centile, whereas later growth more likely to be related to preterm centile. Plot after birth on preterm section until you hit the end (42 weeks) then continue on to main 0-1yr chart, plotting a point for calendar age but adding arrow indicating gestational age. Otherwise unclear whether corrected or not.
Children up to age 2 get weighed without clothes or nappy. From 2, minimal clothing and no shoes. Height is hard! Only act on several measurements that appear consistent!