Category Archives: Nutrition

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

Iron deficiency

Common, General paediatrics, Nutrition, OPD

Iron found in:

  • red meat (also poultry and fish, but less). Liver has high iron content…
  • pulses/legumes (eg lentils, pea, beans, kidney beans, chickpeas, edamame)
  • nuts
  • dried fruit eg raisins, dried apricots (but not great for teeth…)
  • fortified breakfast cereals (so not porridge?)
  • dark green vegetables (including broccoli) – but the iron is harder to absorb
  • Bread is generally fortified in the UK. Wholemeal is naturally high in iron but also contains phytates that inhibit absorption…). Not sure about flatbreads/wraps etc.

Vitamin C helps absorption.

See also anaemia.

GLP-1 receptor agonists

Endocrinology, Gastro, General paediatrics, Nutrition, OPD

=Glucagon-like peptide receptor agonists eg semaglutide.

Indicated as an adjunct to a reduced-calorie diet and increased physical activity for chronic weight management in adults with an initial BMI ≥30 kg/m² (or ≥27 kg/m² with at least one weight-related comorbidity).

NICE recommends as an adjunct to lifestyle measures only when:

  • it is used for a maximum of 2 years, 
  • within a specialist weight management service, and
  • in patients who have at least 1 weight-related comorbidity and have BMI ≥35 kg/m² (or a BMI between 30 kg/m² to <35 kg/m² who “meet the criteria for referral to specialist weight management services”).

NICE recommends using lower BMI thresholds (eg 2.5 kg/m² less) for people from South Asian, Chinese, other Asian, Middle Eastern, Black African or African-Caribbean family backgrounds.

RCT data showed that patients receiving semaglutide lost an average of 6% to 16% of their total body weight compared with controls, when combined with other behavioural modifications. It has also demonstrated cardiovascular benefits: in adults aged 45 and older who have concurrent cardiovascular disease (but no history of diabetes), semaglutide reduces the overall risk of major cardiac events (heart attack, stroke, or cardiovascular death) by 20% at a mean follow-up of 40 months.

Common adverse effects include explosive diarrhoea, nausea, eggy burps, headache, fatigue, and hypoglycaemia in diabetic patients. Contraindicated in history of thyroid medullary cancer or MEN2.

Liraglutide is similar but was inferior in 1 head to head trial. Daily SC injections.

Tirzepatide is a dual glucose-dependent insulinotropic polypeptide and GLP-1 receptor agonist. Weekly SC injections. RCTs showed weight loss of 18-20%. Similar indications and contra-indications.

Adverse Childhood Experience

Child protection, General paediatrics, Nutrition, Psychology, Sociology

Associated with range of negative outcomes.

Later lifestyle

Adverse childhood experiences increase probability of smoking in adulthood. Physical harm in Eastern European countries increases the probability of heavy drinking by about 3.4%, but not in other regions. Exposure to child neglect (little understanding) increases the probability of alcohol abuse by 2.7% in Nordic Countries but not other macro-regions. The experience of a poor relationship with parents is a strong predictor of alcohol abuse for the female subsample in Latin countries (2% higher).

While ACE does not appear to have a substantial effect on excess weight in any macro-region, childhood trauma (physical harm) appears to have a major impact on the likelihood of being obese later in life. Obesity has a more obvious impact on chronic illness than poverty, smoking or alcohol.

Trauma informed care

Recognising the impact of adverse experiences (“trauma”) on providing effective care.

Northwestern INFORMED toolkit suggests:

Work to establish trust and safety: Sit down. Demonstrate active listening. Use non-
threatening body language. Make sure the physical space feels safe and comfortable.

  • Recognize the signs of re-traumatization (sudden anxiousness, restlessness, social isolation, physical expressions of such including fatigue, inability to control emotions) or emotional distress related to medical care.
  • Acknowledge that trauma or difficult experiences impacts health care eg “Hospital can be hard for many people, especially if they have had difficult experiences in the past.”
  • Ask open-ended questions, such as:
    o “Is there anything we should know to help make your time here more comfortable
    and make you feel safe?”
  • If a patient discloses a trauma or difficult experiences, respond empathetically, for
    instance:
    o “Thank you for trusting me with this.”
    o “I can see how hurtful that must have been for you.”
  • Navigate the emotions – normalize (“We would expect anyone in your shoes to respond this way after what you have been through”). Be present. “I would really like to understand more.” Respect – “you’ve really made the most of what you’ve been given”.
  • Ask what could be done to support, while not being unrealistic. Check information can be shared and reassure around privacy. Get a team together!
  • Empower – “what has helped you move forward in the past?” “Who has been there for you?”
  • Monitor and feedback to team

The Farm effect in allergy

Allergy, Gastro, General paediatrics, Nutrition

Children growing up on farms are less likely to develop allergies and asthma. Farming has been part of human culture for probably 7000 years.

It is widely accepted now that a symbiotic relationship with a diverse population of microbes in the environment, on the skin, in the gut and in the lung is necessary for a healthy immune system (“microbiome“). These microbes influence the balance between inflammation and immune tolerance. That relationship needs to be developed in early life, and nutrition is a major part.

Big European cross sectional studies – PARSIFAL and GABRIEL. Amish and Hutterites in US are genetically similar but Hutterites use industrial rather than traditional farming techniques (and have 4-6x the rate of hay fever and atopic sensitization).

Prenatal maternal exposure to farm animals is protective against eczema in the first 2 years of life, and against asthma symptoms pre-school.

Farm milk consumption in the first year of life is protective against respiratory allergies. Not clear what it is about it – more whey? Higher levels of cytokines or polyunsaturated fatty acids?

In children, exposure to cows and hay was protective against asthma. Some evidence for pigs, but risk seems to go up for sheep.

Mediators thought to potentially be N-gylcolylneuraminic acid (animals/pets) and arabinogalactan (plants).

Lipopolysaccharide (endotoxin) is widespread in the farm environment. Levels in mattresses inversely associated with hay fever, atopic sensitisation and asthma.

Lack of gut microbial diversity in first month of life predicts school age asthma.

Dietary diversity in first 2 years of life protects against asthma and allergic rhinitis. The link between gut microbes and lung health is thought to be short chain fatty acids, such as acetate and butyrate.

[Ped Allergy and Imm 2022]

In a study of 589 children, 1-year microbiota maturation (based on metagenomics – genetic material of a community of micro-organisms – and metabolomics – metabolites in environment) closely related to eczema, asthma, food allergy and allergic rhinitis at age 5 years. Found a core set of “functional and metabolic imbalances” characterized by compromised mucous integrity, elevated oxidative activity, decreased secondary fermentation, and elevated trace amines. [Hoskinson, BC, Canada – Nature communications . 14(1):4785, 2023 08 29.]

Honey in medicine

Allergy, General paediatrics, Infectious disease, Neurology, Nutrition

Contains a range of different sugars, aromatic oils, also pollens and bee proteins. Royal jelly and beeswax related, of course.

High fructose content can cause GI intolerance in some.

Allergic reactions can happen, often unrecognised, mostly due to specific pollens (depending on what flowers the bees feed on), in minority to bee proteins. Commercial honey tends to contain v low amounts of pollen, due to production techniques. IgE test for honey is available, but you may need to skin prick test with the specific honey if negative.

Honey eaten all year round is rumoured to prevent hay fever symptoms because of the pollens it contains, but this has not been proven, although it’s a nice idea related to immunotherapy. Depends on getting the right pollens of course – bees don’t like grass and birch flowers, probably. In some it may just trigger allergy symptoms.

Cross reaction between honey and bee venom is reported, not surprisingly, but not automatic.

Plant toxins can be present in sufficient quantities in honey to cause poisoning eg rhododendrons (some species).

Botulism reported in infants – failure to thrive, hypotonia, cranial nerve palsies. Clostridium and other bacteria cannot grow in honey due to the high sugar content, but spores can be present. So advice is not to give honey to infants.

Vitamin B12

General paediatrics, Nutrition

Sources are animal products including meat, fish, dairy and egg.

For vegans, yeast products (eg Marmite) or fortified breakfast cereal are the only places you get it.

High levels often seen in teenagers. Appears benign, although high levels reported with lymphoma and hypereosinophilic syndrome, plus liver disease.

Anaemia

General paediatrics, Haem/Oncology, Nutrition

Like many things, low red cell count can be problem of production, loss or destruction.

So causes include:

  • Bone marrow failure or infiltration (leukaemia, Fanconi’s, Blackfan Diamond, erythrovirus/parvovirus)
  • Nose bleeds, gastrointestinal losses eg Meckel’s, gastritis, heavy periods
  • Haemolysis eg G6PD deficiency, hypersplenism, autoimmune
  • Iron, folate or B12 deficiency

In children, one of the most common causes is excessive milk consumption, which appears to lead to a low level colitis. Pica is often the presenting problem.

Investigations

  • Blood film – Howell Jolly bodies if hypersplenism. Leucoerythroblastic reaction (with immature red cells, as well as immature white cells) can be due to malignancy but can also be due to infection and haemolysis. Spherocytes or other abnormal forms may suggest a hereditary haemolytic condition. Sickle cells in sickle cell disease.
  • Low MCV suggests lack of iron, but may also be due to thalassaemia.
  • Reticulocyte count – indicates on going red cell production, may be high if recovering from low production
  • White cell count and platelets – if low too, suggests bone marrow failure but parvovirus can knock off all cell lines too.
  • Coagulation – deranged coagulation with low platelets suggests disseminated intravascular coagulation (DIC), usually due to sepsis, but can also reflect haemophagocytosis syndrome (due to sepsis or rheumatological disease)
  • Renal function – haemolytic uraemic syndrome (usually with diarrhoea and bloody stools, but not always)

Iron is found in red meat, pulses, green leafy vegetables, wholemeal bread, nuts, dried fruit, fortified breakfast cereals.

Iron deficiency is associated with poor concentration and school performance, even in absence of anaemia, so low threshold for treatment?

Meat and health

Medical, Nutrition

Processed meats in particular linked with cancer. Probably the nitrites that are nearly always used.

Increases risk of colorectal cancer. As does alcohol. Dairy products, fruit/veg, fibre all prevent.