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Polymicrogyria

One of the most common malformations of cortical development.  

Bilateral perisylvian polymicrogyria (BPP) is the most common subtype , causes the congenital bilateral perisylvian syndrome:

  • oromotor dysfunction,
  • cognitive impairment,
  • epilepsy.

Many possible causes eg vascular or hypoxaemic insults (eg twin-to-twin transfusion syndrome) and congenital cytomegalovirus infection. Genetic causes also important – some syndromes eg 1p36.3 and 22q11.2 deletion syndromes. PIK3R2  gene defects are the most common genetic cause of BPP in patients with normal head size, and the second (to  PIK3CA ) most common cause of polymicrogyria associated with large head size. RTTN gene  also associated with isolated BPP.

[Lancet Neurology, The, 2015-12-01, Volume 14, Issue 12, Pages 1182-1195]

Spiritual care

See also Difficult conversations.

Taking a spiritual history

  • do you consider yourself religious or spiritually minded?
  • where do you get inner strength from?

[Larry Culliford podcast]

[RCPsych leaflet]

All staff play a role in spiritual care.  Definition – “Allow people to explore their innermost feelings and ask the most difficult questions about suffering, illness and death”. Aim to help those in need find peace of mind.

Many levels – speaking with dignity and respect, training in bereavement, specialist spiritual care provided by department of spiritual care and wellbeing.  Spiritual care volunteers also available.

[NHSL spiritual care guidelines]

[Scottish government guidance CEL 2008.]

Staff care also important eg reflective practice, mindfulness, Schwartz rounds etc.

LGBT issues

Sexual orientation vs sexual practices vs gender identity.

“Coming out”  means primarily acknowledging your own lesbian, gay, bisexual or transgender identity to yourself.  Coming out to others is not a one-off experience, LGBT people have to make decisions on whether to (or not) disclose, often on a daily basis. This can be an ongoing source of stress and distress.  Heterosexism – assumption of heterosexuality, +/- judgment of its superiority in terms of moral value.

Harassment in the workplace can lead to the organisation and/or the individual being found liable and having to pay compensation.

The umbrella term transgender includes transsexual people and transvestites.

A trans-man is someone who transitions from a female label at birth to a male gender identity.  When the transition is complete, their trans identity could be considered a part of their past medical history, rather than an on-going identity.

Trans vestites (medicalized? “Cross-dressers” better?) have no desire for any permanent transition but enjoy aspects of the opposite gender and may have a temporary identity including a different name.

Trans sexual protected under Equality act by EU gender directive 2007.

It is the impact on the individual that determines whether bullying, harassment or discrimination has occurred, not the intentions of the perpetrator.

Gender recognition act 2004 allows trans sexual people to apply for full legal recognition of their acquired gender (evidence must be provided).  It is also a crime to disclose previous gender without express permission.

Under legislation it is also illegal to discriminate against someone on the basis that they are heterosexual!

[Good LGBT practice in NHS document, Stonewall Scotland]

Dyschezia

Baby strains and cries to pass stool but it comes out soft or not at all.  Functional gastrointestinal disorder thought to occur in 0.9 – 5% of infants under 6 months (Rome IV criteria).

Due to poor co-ordination of pelvic floor muscles with increased intra-abdominal pressure generated during stooling. Seen in babies up to 9 months.

Studies have reported symptoms of discomfort around passing normal stool in up to 18% of babies, not all of these children will strictly meet the diagnostic criteria for dyschezia.

Differentiating from true constipation etc requires a clinical history and a normal clinical examination, with the key difference being that the stool is not hard in dyschezia.

No medication (or any form of rectal stimulation) required, can be expected to resolve spontaneously.

Urate

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)

Parenting and permanence orders

Permanence order is mechanism for local authority to apply for parental rights and responsibilites to be removed from parents.

Not specifically detailed in law (2007) but “threshold test” must be satisfied:

  1. living with parent poses threat of serious detriment to welfare of child
  2. the need to safeguard and promote welfare of child is paramount consideration
  3. that it is better for the child that the order be made, than that the order not be made

Supreme Court decision In the matter of EV (A Child) (No 2) (Scotland) 2017 –

Not duty of parents to prove parenting ability, but for social work to prove lack of ability with full assessment (or adequate records and sworn evidence of non-engagement).

Also, although allegations of harm may be sufficient reason to place child in care, not sufficient for seeking “permanence order”.  Given that this may mean waiting on criminal proceedings to be completed, children may be stuck in hearing system for longer than before.

[https://andersonstrathern.co.uk/news-insight/supreme-court-permanence-order-decision-lessons-learned/]

 

Cerebral Arteriovenous malformation (AVM)

Present with hydrocephalus or else cardiac failure in neonatal period. Clue is that heart is structurally normal!

Life time risk of haemorrhage is high, presenting with headache or seizure.  Annual rate about 6%.  Focal neuro signs rare prior to haemorrhage!  Risk slightly higher in deep locations eg basal ganglia.

Once haemorrhage has occurred, risk of further haemorrhage increases significantly.  Microsurgery, radiosurgery or embolization techniques used alone or in combination.

 

Egg allergy

Common.  Associated with eczema.  Can be prevented by early introduction as part of weaning – see EAT study, where 75% of cases prevented where families could stick to protocol.

Mostly mild reaction, 7% anaphylaxis quoted before diagnosis made.  Moderate to severe reactions can occur just from contact, if raw egg has been applied to inflamed nappy rash.

Diagnosis is made clinically.  No investigations are required if reactions mild (not really defined!).  Testing “useful” in “mod-severe” reactions (not specified really but does say hospital challenge if “severe vomiting or diarrhoea”).  No cut off given for SPT or IgE although historically 95% PPV at 4mm or 4ku/l under age 2, 7mm or 7ku/l over the age of 2. 

Encourage early introduction of peanut (do peanut test at the same time, if you are going to test), as per EAT study. 

Children referred to dieticians have half the rate of accidental reactions! Referral to dietician if multiple food allergies, or nutritional concerns, or difficulty following ladder; or if severe allergy. 

1/3 of children grow out of their egg allergy by age 3, 2/3 by age 6.  Predictors of tolerance are ability to have baked egg, mild reactions only, isolated egg allergy, IgE level (and presumably SPT but not mentioned).

Predicting tolerance of cooked egg tricky – Gal d1 (ovomucoid component – OVM – heat stable) >=11 indicated high risk of reacting to cooked, and persistence of allergy. In 1 study, none of the blood tests predicted tolerance of baked egg; Gal d1 had PPV of 58.33% for cut off of 1.73 kU/L, with a specificity of 93.15% . If isolated Gal d2 (ovalbumin, OVA) positive then likely transient. Better predictive value than regular IgE for egg anaphylaxis. Can be useful for assessment of resolution in adults.

Ovomucoid sIgE ≤1.2 kUA/L considered safe for home introduction.

In study of raw egg tolerance at age 5+, ovalbumin IgE/total IgE ratio was best predictor.

Since most children do grow out of this allergy, step by step, cautious reintroduction should be encouraged from 12 months of age, or 6 months after the last reaction.  This can be safely done at home unless:

  • history of severe reaction
  • severe or poorly controlled asthma

Mild asthma, and reaction to trace amount (or contact only) are relative indications.

For severe allergy, or allergy beyond age 6-7yrs, check history of reactions and repeat tests – but no specific IgE levels to indicate when to challenge! “Reasonable” if no recent reaction and reduction in IgE or SPT.

Egg “ladder” for step by step reintroduction simply baked egg (eg sponge cake), followed by less well cooked egg (French toast), followed by raw or nearly raw (mayonnaise). 

Where stage 1 achieved but difficultly moving further, regular ingestion should promote tolerance

Although can be frightening to challenge at home, prolonged total exclusion more likely to lead to persistent allergy, and of course increases dietary plus social exclusion. 

If there is a reaction at any stage, the previously tolerated diet should be continued and further escalation considered after 3-6 months.

Taste can be an issue – try egg fried rice, or sweet muffin, egg noodles, Quorn, sponge fingers, egg custard.

Remember vaccines – MMR made using egg but no identifiable egg protein remains so egg allergy not given as possible contraindication.  Out of the scheduled vaccines, only influenza vaccines is a potential issue, and even then nasal flu vaccine (or low egg or egg free injectable version) can be given with standard precautions unless anaphylaxis to egg requiring intensive care. Just specialist travel vaccines eg Yellow fever that might be an issue. For latter, should be “referred to specialist with access to designated YF vaccination centre” (3 in Lanarkshire, including Monklands hospital travel clinic and Calderlea centre at Alison Lea!).  No mention of JE, TBE??

[BSACI guidance 2021]

Egg allergy in adulthood has significant impact on quality of life, particularly around dietary restrictions and emotional impact. “Bird-egg syndrome” is allergy to both egg, feathers and chicken, due to Gal d5 (alpha livetin) sensitisation – can develop in adulthood, usually where exposed to feathers.

Treatment

No standard immunotherapy regime for egg. EAACI do not recommend OIT for persistent egg allergy.

One regimen is with raw egg white powder (!), aiming for target maintenance dose of 1g of egg white protein (approximately 1/3rd of an egg white). If no success, switch to cooked egg and try again. 3 months after reaching target dose, oral egg challenge with half a boiled egg white – if passed, allow up to one-half of an egg in heated form, but do not increase amount of raw egg. Aim for continuous daily consumption and add well cooked egg (eg meatballs, egg pasta, brioche bread, pancakes, pastries) into the diet.

Cochrane review 2018 (10 RCTs, ages 1-18), 82% achieved 10g egg protein (1 egg) cf 10% of control. 50% achieved sustained unresponsiveness by the fourth year. Small studies, low quality evidence.

In 2021 Helsinki study, after 8 months of OIT, 44% of the children were desensitized, 46% partially desensitized; at 18 months, over 80% eating egg regularly, 72% able to eat target dose. More than half not restricting at all. 

Early discontinuation is associated with underlying asthma, higher specific IgE and lower threshold during challenge.

Ovomucoid (Gal d1) IgE 8.85 kU/L indicated a 95% probability of early discontinuation or ongoing reactions over time. Ovalbumin (Gal d2) is heat labile so if this is the only one you are sensitised to, you should be ok with baked.

Low pre-treatment levels of egg white and ovomucoid IgE predict sustained unresponsiveness following egg immunotherapy. Decrease in size of SPT and increase in egg-specific IgG4 over time predicts tolerance in children being treated with egg OIT. Ovalbumin IgG4 and Ovalbumin IgE/IgG4 ratio may be useful to predict the development of tolerance to egg in oral immunotherapy.

High egg IgE levels and sensitization to all four components (Gal d 1-4) predicted failure or impaired response, but Helsinki authors still felt OIT worth trying.

Another way would be to start with egg yolk (carefully separated and the sac disposed of, since it has been in contact with the white) – discussed in a Japanese paper looking at a single adult female – or even quail egg followed by duck egg (TIP style programme).