All posts by admin

SUDEP

General paediatrics, Neurology

Definition is sudden unexpected death with or without seizures, after exclusion of status epilepticus, where PM does not identify another cause.  Cases almost exclusively in symptomatic epilepsy.

SPEN response to determination of Sheriff Duff (that SUDEP should be discussed with all patients with epilepsy) –

  • Most data on SUDEP from adults.
  • Risk is unlikely to be predictable at time fo diagnosis so debatable that this is the appropriate time to discuss it.
  • No evidence that increased supervision of sleep is of benefit.  So arguable that discussion will cause unnecessary anxiety.

Berg AT, Shinnar S, Testa FM, Levy SR, Smith SN, Beckerman B. Mortality in childhood-onset epilepsy. Arch Pediatr Adolesc Med. 2004 Dec;158(12):1147-52.

Camfield CS, Camfield PR, Veuglers PJ: Death in children with epilepsy: a population-based study. Lancet 2002;359:1891-1895

Weber P, Bubl R, Blauenstein U, Tillmann BU, Lütschg J. Sudden unexplained death in children with epilepsy: a cohort study with an eighteen-year follow-up.  Acta Paediatr. 2005 May;94(5):564-7.

Living with Epilepsy

General paediatrics, Neurology

Driving

In UK, driving is forbidden after a single epileptic seizure.  If seizure happens after age of 5, permanent ban on driving HGV, passenger service vehicles, racing.

Reinstatement of license depends on seizure free period, and whether seizures have occurred only during sleep or not.  You can reapply if you haven’t had an attack for at least a year.  If you had a seizure because your doctor changed or reduced your anti-epilepsy medicine, you can reapply when:

  • the seizure was more than 6 months ago
  • you’ve been back on your previous medication for 6 months
  • you haven’t had another seizure in that time

If your seizures have only been during sleep, you need at least 12 months seizure free.  If seizures have been when awake as well as in sleep, then must have been 3 years with only seizures in sleep.

If however generalized spike and wave activity on EEG, then reinstatement cannot occur.  DVLA seem to retain the right to decide on individual basis.

Death and Accidents

SUDEP (sudden unexpected death in epilepsy) should be discussed at or around the time of diagnosis.  There is a tendency for professionals to avoid talking about it.  Evidence from review of cases is that deteriorating seizure control in preceding 3-6 months common, as is lack of regular clinic review.

Discuss safety esp bathing, swimming, cycling.

There are numerous devices and tools available.  Unfortunately, no single type of monitor (movement, breathing, ECG, EEG) likely to be sensitive.  But important to have balanced approach – consider risk of events, likelihood of false alarms, and the fact that no device can guarantee that SUDEP will not occur.

The best way to prevent SUDEP is to stop seizures occurring in the first place!

BMJ safety checklist

EpSMon is a patient app.

Another useful source of objective information is the latest Cochrane Review on SUDEP interventions.

Other things to consider:

  • Medical ID cards or Jewellery
  • Seizure alert dogs
  • Seizure alarms – phone app, else local authority may be able to provide, else charities
  • Anti-suffocation pillows
  • protective headgear

In a UK review of epilepsy deaths.  15% related to status epilepticus, 15% SUDEP.  Majority due to co-existing morbidities.  24% considered preventable, usually related to fragmentation of care, support for families in responding to emergencies, and hospital response to acutely unwell child (incl status). [BPS poster]

Contraception

Women taking anticonvulsants and oral contraceptives have 25 times the risk of pill failure as normally expected, due to action of some anticonvulsants (eg phenytoin, phenobarbitone, primidone, carbamazepine, and ethosuximide) on the hepatic microsomal enzyme system, resulting in a dramatic decrease of circulating oestrogens.  Discuss with pharmacist, as complicated!

Contraception also important if potential teratogenic effect esp valproate.

Family Support

Complement deficiency

General paediatrics, Immunology, Infectious disease

Complement cascade can be triggered by classical (antibody binding to antigen, but also directly by C-reactive protein an other substances), lectin (mannan binding lectin, which recognise glycoproteins not typically found in higher order animals) or alternative pathways.  The alternative pathway is the oldest, and constitutes a constant low level autoactivation, at the ready to explode!  Properdin acts here, and may ineract directly with bacteria.

Deficiency can cause susceptibility to infection, but see also hereditary angioedema and atypical HUS.

C3 is the common factor, so deficiency leads to severe infection with encapsulated organisms eg Pneumococcus, Haemophilus, Meningococcus.  Deficiency in terminal and alternative pathways lead almost exclusively to problems with meningococcus!

Properdin

Stabilizes C3/C5 convertase enzymes.  Deficiency (X-linked) associated with fulminant meningococcal infection, especially with unusual types eg W135, Y!  Phagocytosis more important for type B disease? Life time risk for affected individual is about 50%!  Interestingly, mean age of presentation is 14yrs.  Recurrence is actually unusual, presumably due to intact immune memory.

Subtypes characterized by absent, low level and dysfunctional properdin seen.  Standard screening with C3, C4 and CH50 are normal.  Good family history is more important.

Good antibody responses to Men ACWY vaccine.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1905414/

 

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2952982/

 

https://www.ncbi.nlm.nih.gov/pubmed/19758139

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.

Autistic Spectrum Disorder

Community, General paediatrics, Mental health, Neurology

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

Assessment

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

Types

  • 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

Support

ARCH, REACH and National Autistic Society

Tuberculosis

General paediatrics, Infectious disease

[needs revising]

Contacts

Offer testing to close contacts of pulmonary or laryngeal TB treated for less than 2 weeks. Over 2yrs, start with Mantoux. If negative, repeat after 6 weeks with IGRA.

Smear positive get immediate assessment for active TB. Smear negative refer to specialist.

Neonates start isoniazid with pyridoxine. Mantoux at 6 weeks.

Mantoux>= 5mm positive regardless of BCG history.

If positive assess for active TB. If assessment negative, complete treatment for latent (6months). If negative reassess for active TB and consider IGRA test. If IGRA negative stop treatment and give BCG.

For under 2yrs, start isoniazid +/- rifampicin and do Mantoux. Latent treatment with rifampicin is just 3/12.

If Mantoux negative continue treatment, assess for active TB after 6/52 and repeat Mantoux. Consider IGRA as above.

IGRA should only be done alone if Mantoux not available or impractical(?!).

Diagnosing active disease

If clinical signs and suspicion, start treatment pending test results.

Do CXR and 3 cough swabs (including 1 early morning). Young children get induced sputum.

Other testing depends on age and whether suspected pulmonary.

  • If suspected pulmonary, then do rapid diagnostic nucleic acid amplification tests (PCR) – usually only 1 per specimen type (deep cough sputum, induced sputum or gastric lavage) AND IGRA+/or Mantoux
  • For extrapulmonary, after imaging, discuss pros/cons of both biopsy and needle aspiration (NOT into formalin…). Do CXR anyway.
  • if clinical suspicion, HIV Positive, need for rapid result or large contact tracing exercise.

[NICE guidance 2016, updated 2019 https://www.nice.org.uk/guidance/ng33]

Stereotypy

Clinical, General paediatrics, Neurology, OPD

Where children present with abnormal movements, consider:

Stereotypies are repetitive non-functional movements, typically hand flapping or twisting, body rocking, head banging/nodding, grimacing, arm flapping. As with tics, there is often a family history, and there is an association with obsessive compulsive tendencies.

They can be present in children with normal development, but are a feature of neurological disorders especially autism spectrum disorder and sensory impairment.  In these children, the movements are part of a period of introspective absorption, they make prefer such activity to conventional social interactions.

There are a number of differences from tics, although they can co-exist:

  • Sterotypy presents younger, eg under 2 yrs.  Tics present from 4 onwards.
  • Tics can vary over time, so grimacing moves on to  shoulder jerks, then moves on to clearing throat.  Stereotypy movements are unchanging.
  • Stereotypy movements are rhythmic, rather than just a single jerk
  • Tics are brief, stereotypy can be prolonged
  • Tics have a premonitory sensation (although only older children may be aware)
  • Tics can be suppressed with effort.  Children with stereotypy can be distracted but may resent it! (Similarly self gratification)

Excitement and stress are triggers for both.  Over time, the child usually becomes aware of social disapproval and may suppress the behaviour except in secret!

[Ulster Med J 2014;83(1):22-30]

 

 

 

Vitamins

General paediatrics, Medical, Nutrition

A -orange or red foods.  Apricots, carrots, peppers, sweet potato, squash.  Also dairy, eggs, oily fish, (famously) liver.

B1 (thiamine) – deficiency causes several different syndromes including Wernicke’s encephalopathy (confusion, ataxia, ocular) and dry (peripheral neuropathy) or wet (cardiac failure) beri-beri. Depends on chronicity.  Classically alcoholism or diet dependent on polished rice. Bread has it!

B6 – fish, potatoes, fruit, fortified breakfast cereal.

C – citrus, blackcurrant, kiwi, berries.  Also peppers, broccoli, Brussel sprouts, potatoes.

B12 – see Vitamin B12.  Found in fish, meat, eggs, milk, fortified breakfast cereal, yeast extract (Marmite).  So a major issue for vegans.  Deficiency classically causes macrocytic anaemia.

Curiously, teenagers often seem to have high levels in my experience.  Apparently this can be a flag for some nasties, namely malignancies, liver and kidney diseases, and can then be accompanied by symptoms of deficiency, due to disrupted pathways…  [QJM 2013]

E – nuts and seeds.

K – green leafy veg.

Folate (folic acid) – green leafy vegetables, broccoli, brussel sprouts.  Oranges, wholegrain cereals, nuts and pulses (peas, chickpeas, kidney beans)

Treatment

If vision loss or other neurological complications of malnutrition, can use IV or IM Pabrinex – vitamins B1,B2, B6, C, nicotinamide and glucose for intravenous or intramuscular administration.

Additionally, vitamins A and B12 may be replaced using high-dose intramuscular injections but may need unlicensed imported product.

Recurrent aphthous ulcers

Common, General paediatrics, OPD

Very wide range of risk factors and causes for aphthous ulcers including any sort of physical or chemical irritation, there are probably genetic factors.

Minor vs major vs herpetiform: how big and painful!  HSV is possible but tends to affect lips and produce crusts.

There is some suggestion that iron, Folic Acid and B12 deficiencies can trigger it.

Food triggers: acidic foods such as tomato, citrus. Nuts, chocolate, wheat and spices.

Cinnamon and benzoates – Glasgow study of adults with RAS or Orofacial granulomatosis and other oral mucosal diseases found significantly higher rates of positive patch testing in both groups (70%, cf 60% of controls!), esp food additives (benzoic acid, salicylic acid, tartrazine, glutamic acid, butylated hydroxytoluene, butylated hydroxyanisole, propylene glycol, sorbic acid and sodium metabisulphite), – 41% contact urticaria cf 22% controls – with high rate for benzoate,  Perfumes and flavourings 40.7% overall, vs 9% controls –  of which cinnamaldehyde most important (32.4%).  Chocolate was mentioned specifically but actually only 3.7% positive.  [QJM. 2000 Aug;93(8):507-11. PMID 10924532]

Aphthous ulcers can be a sign of an underlying problem including inflammatory bowel disease, coeliac disease, Behcet’s and PFAPA syndrome but you would expect other signs and symptoms.

The less obvious cause would be cyclic neutropaenia.

Aphthous ulcers can be a lifelong problem although they tend to be less of an issue after teenage years.

Treatment

Apart from Bonjela, Difflam spray, chlorhexidine mouth rinse.  Cholinesalicylate dental gel (not licensed under 16 years).

Steroids: Hydrocortisone dissolving tablets, else a steroid inhaler sprayed in to the mouth or Betametasone soluble tablets as  mouthwash (unlicensed).

BNFc mentions doxycycline rinsed in mouth!

Salt water rinses, applying teabags or Aloe juice directly to the ulcers!?