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Tic Disorders and Tourette Syndrome

General paediatrics, Neurology, OPD

Tics are recurrent, sudden, non-rhythmic twitches. Can be in 1 muscle or muscle group, but can also be a more complex semi-purposeful movement, or even present as a bizarre gait. Typically affect face (eg blinking, grimacing), neck, shoulder.  Can be more complex sequences of movements. Characteristics are:

  • Tend to be situational, with stress making them worse.
  • Initially they are suppressible, although depending on the situation this suppression can be virtually effortless! Usually though, suppression leads to rising anxiety and then a rebound in frequency.
  • There is often a premonitory feeling.
  • They can be suggestible.

Differential includes stereotypy, spasms, chorea.

Although tics can wax and wane over time, there is a general tendency to improve, and they are very unusual in adulthood.

Tics occur most commonly in boys. Usually they are transient, lasting for between 4 weeks and 1 year. A chronic tic disorder does exist distinct from Tourettes.

Vocal tics (clearing throat, yelps, coughs, sniffs, grunts) can occur in isolation, but a combination of vocal and motor tics suggests Tourette’s syndrome.

Tourette’s syndrome

Thought to affect 1% of children, so probably a lot subclinical! An inherited neuropsychiatric condition, it starts at a mean age of 7 but can be as young as 2yrs. Motor tics come first, about a year before vocal tics. Complex vocal tics may be seen but contrary to public understanding, most kids do not swear (coprolalia)!

Definition requires that motor and vocal/phonic tics are present (at some point) for at least a year, on a daily basis, with onset prior to 18yrs, in absence of substance misuse, medical condition or medication.  The characteristic features of Tourette’s are:

  • Echolalia – repeating phrases
  • Palilalia – repeating other people’s words
  • Coprolalia – swearing or abusive language. Involuntary, and causes distress to the patient, who will often try to conceal the outburst by coughing, etc.
  • Copropraxia – making obscene gestures
  • Palipraxia – imitating other people’s gestures

Tics wax and wane, evolve over months.  Can be self harming eg scratching, rubbing, head banging, punching, poking, stabbing oneself (see also obsessive compulsive co-morbidity below).

In some patients, there is a non-obscene compulsion to shout socially inappropriate things (NOSI).  Often worsens around puberty. 50% abate after puberty, but mostly just better self-management?

Differential is basal ganglia or cerebellar abnormality eg post-encephalitis, Huntingtons.  Investigations only necessary where unusual deterioration or progression of symptoms.

Co-morbidity

Pure tic disorder is unusual in Tourettes. 85% have comorbidity, most commonly:

  • Obsessive Compulsive Disorder/Behaviour – less to do with cleanliness, more sexual/religious/violent themes, orderliness, symmetry, checking, counting, forced touching.
  • Self-injurious behaviour is well described (see above)
  • ADHD
  • Conduct disorder, affective disorders more rarely.

The comorbidities are often more significant on school performance than the tics.  Comorbidities are common in relatives, even if tics are not.

Treatment

Counselling is useful for self-esteem, anger management, and social functioning. Habit Reversal Training is effective but not widely available – officially 12 weekly hour sessions, need to recognize premonitory urges and then replace tic with controlled movement, or position self to prevent tic (eg chin on chest to prevent shouting).

Drug treatment may be considered eg self harming, but not much evidence for effectiveness.  Traditional or atypical neuroleptics, or clonidine (esp where behaviour or sleep problems) used.

Deep brain stimulation being researched.

Prognosis

Tic frequency and severity decline with age in a large proportion of patients (59–85%).

Predictors of NOT improving include higher childhood tic severity, smaller caudate volumes and poorer fine motor control.

The presence of untreated comorbid psychopathology, such as ADHD and OCD, can adversely affect the long-term outcome of patients with TS.[Funct Neurol. 2012 Jan-Mar; 27(1): 23–27. ]

Tourettes Action parent support group.

[Stern, Curr Peds 2006:16:459]

Fabricated and induced illness

Child protection, General paediatrics

Five possible causes for discrepancy between reported and observed symptoms/signs suggested in the RCPCH guidelines:

  1. Exaggeration due to anxiety, poor understanding, lack of knowledge
  2. Carer misperception of child’s illness leading to genuine belief that child is ill
  3. Carer actively promotes sick role by non-treatment or fabrication/falsification or induction of illness (‘true’ FII)
  4. Carer suffers from psychiatric condition which leads them to believe the child is ill
  5. True medical condition

It is important to keep an open mind and to carefully plan appropriate assessments for both medical causes and evidence of maltreatment, without putting the child at further risk of harm.

RCPCH National guidance supports the clinician and team in withholding concerns about FII from the parents at early stage of investiagion. This highlights the main difference in dealing with suspected FII compared to other forms of abuse. Documentation and information sharing need to be handled carefully, as alerting the parents to your concerns may put the child at greater risk of harm – concerns should not be recorded in case notes, parents should not be informed.  Important that team is united.

Gather information about the parents’ background and any known health problems, including some assessment of parenting capacity and risk factors such as domestic violence, mental health issues or drug abuse. This is essential not optional.

Chronology – given multiple attendances for multiple children with different services, helps see overall picture for a family.  Should also include significant events eg moves, bereavements etc.

It is important to feed back your findings to the parents that there appear to be no medical problems and that this is good news.  How family responds to initial assessments and management plans is key to making the diagnosis.

In-patient: clarify nursing ability to supervise 24hrs a day.  Can child leave ward with/without nurse escort?  Who gives medication/food/drink?  Where should notes be kept?

If parents demand a new consultant, you can agree to involve another consultant for a specific medical issue eg asthma/epilepsy.  You should definitely discuss with named doctor.  CAMHS could also be useful for discussing case (and supporting staff, esp if conflicting views)

Disclose to parents – if decision is made to disclose concerns, keep it positive (health of child, etc).  Bring in dad, gran etc if potentially useful.  Don’t confront or challenge, acknowledge how parents and professionals can have different perceptions and responses to a child’s problems.  Present united front, and unambiguous plan.

 

Seborrhoeic dermatitis

Dermatology, General paediatrics

Scaly skin condition in babies, particularly affecting scalp. Red/orange scales, oily, flaky.  Not terribly itchy.

Affects sebaceous (greasy) zones – face, scalp, centre of chest, skin folds (neck, groin).  Often nappy rash. V common (includes dandruff!).  Inside, outside and around ears can be affected.  Eyelids can be affected (blepharitis).

Babies get transient type – cradle cap (scalp) and nappy area, clears after a few months.  In adults, affects face (esp around nose and ears) and can affect chest and upper back. Can lead to hair loss but more usually cosmetic concerns.

Thought to be caused by overgrowth of Malassezia yeast.  Can be severe in HIV.

Differential is psoriasis.  Scales in psoriasis are thicker and whiter – unusual for face to be affected.

Treatment

For cradle cap in babies, usually enough just to use daily mild shampoo and gentle brushing.  Shampoo may make it worse if the diagnosis is actually atopic dermatitis!  Failing that, coconut oil (NOT olive oil, which has potential to damage skin, apparently) or other moisturizer left in overnight or applied just before bath.

For scalp, Zinc pyrithione, selenium or ketoconazole shampoo (but only licensed for older children).  Leave 5-10 mins before rinsing.  Descaling treatment available – coconut oil and salicylic acid, needs hours.

For body, moisturizer, topical steroids+antifungal eg Canesten HC, Trimovate.

For blepharitis, use baby shampoo to lift flakes.

In adults, anti -androgens.

LEAP-On study

Allergy, General paediatrics, Immunology

Follow-up from LEAP study, after both groups (eating and avoiding) told to avoid peanuts for 12 months. The rate of adherence to avoidance in the follow-up study was high (90.4% in the peanut-avoidance group and 69.3% in the peanut-consumption group). Peanut allergy at 72 months was significantly more prevalent among participants in the peanut-avoidance group than among those in the peanut-consumption group (18.6% [52 of 280 participants] vs. 4.8% [13 of 270].

[George du Toit, Gideon Lack in London, DOI: 10.1056/NEJMoa1514209]

Enterovirus

Common, General paediatrics, Infectious disease

Mild: fever +/- rash, hand/foot/mouth, herpangina, pleurodynia, pharyngitis, conjunctivitis, croup.

Serious: meningitis, encephalitis, acute paralysis, neonatal sepsis, myo/pericarditis, hepatitis, chronic infection (immunocompromised).

Meningo-encephalitis in neonates usually associated with other organ involvement. In adolescents headache can be severe and symptoms last several weeks! Early CSF can show around 1000 neutrophils! Prognosis good, although some subtypes with encephalitis highly aggressive eg EV-71 outbreak in Taiwan in assoc with hand/foot/mouth (78 deaths).

Acute flaccid paralysis can occur cf polio. Particularly Enterovirus EV-D68 (also associated with respiratory disease), some clusters.  Increased incidence across Europe including Wales since April 2016.

Neonatal disease can be severe, mimicking bacterial sepsis or HSV. Maternal history is often elusive.

Virus is shed in throat and stool (rectal swab quicker than stool!), can also be detected in CSF, blood and urine.

Role of IVIG is unproven but antibody plays an important role in immune response to EV. Pleconaril in enteroviral meningitis RCT, 38% to 50% improvement in symptoms in the drug-treated group with improvement noted as early as 24 hours after initiation of therapy – no longer available.

[Current Opinion in Pediatrics. 13(1):65-9, 2001]

Human Parechovirus has been described in Japan, Canada and now the Netherlands, causing neonatal sepsis or encephalitis in about 10% of cases where culture suggests enterovirus but PCR is negative. [Clin Infect Dis. 2006 Jan 15;42(2):204-10]

Multiple sclerosis

Genetics, Neurology

Only 3-5% of cases of MS have symptoms before the age of 16. Most have a relapsing-remitting course, particularly in the beginning, typically with one to two relapses per year. The frequency of attacks does seem to predict disease severity and earlier evolution to secondary progressive phase.

Although it takes longer in kids to develop persistent disability, they still develop it at a relatively young age, for example the third or fourth decade of life. That is of course going to have significant effects on life course, including work and family life.

Even at onset, cognitive function is often reduced, which will also affect education and socialisation. So clearly there is interest in disease modifying treatments.

Presentation in younger children often follows an infectious illness. Cognitive impairment is more common relative to older kids.

Investigations

MRI of brain and spine, looking for demyelinating lesions.

Monoclonal bands in CSF.

Treatment

Steroids 10-30mg/kg for 3-5 days effective. No good evidence for IVIG. Where acute life threatening symptoms, plasmapheresis may be effective where steroids fail.

In adults good evidence for interferon Beta in relapsing-remitting disease, IM or SC depending on product, reduces relapse rate and probably slows progression of disability. Glatiramer is a synthetic product with similar effects.

Second line treatments in adults include Natalizumab, mitoxantrone and cyclophosphamide.

Differential diagnosis

  • lysosomal storage disorders,
  • various mitochondrial diseases,
  • other neurometabolic disorders,
  • Krabbe, Metachromatic leukodystrophy, X-linked adrenoleukodystrophy, Fabry, Niemann-Pick C, Chidak-Higashi.  [Clue is in the name, leukodystrophy]

Since these are genetic conditions, essential for management and genetic counselling.

J Weisfeld-Adams http://brain.oxfordjournals.org/content/138/3/517

Mitochondrial inheritance

Genetics

A mother with a mitochondrial DNA gene mutation will pass this abnormal gene to all of her children. The children will all be affected, but with different degrees of severity.

As it is not possible to predict how the children will be affected, this is immensely difficult for planning a family.

Leigh disease

General paediatrics, Genetics, Neurology

Infantile subacute necrotizing encephalopathy.

Clinically heterogenous, lots of different genes.  Can be X-linked, mitochondrial or recessive!!!  Main genetic problem is mitochondrial complex defect, but same disease can be caused by pyruvate dehydrogenase defect (actually a complex of enzymes).

Baby’s initial development may appear normal, although there may be failure to thrive.  Lactate can be raised in serum.  Progressive, often rapid, neurological deterioration including hypotonia, dystonia, seizures.

Lesions (necrotic, gliosis, spongiosis) seen in basal ganglia, brainstem, cerebellum, spinal chord.  CSF lactate and pyruvate may be raised, even if serum normal.

See mitochondrial inheritance.

 

Hospitality

Ethics, Generic

It is acceptable for staff to receive small tokens of gratitude from a relative or carer in appreciation of care and treatment received. These are typically cards, chocolates or biscuits. Where staff are offered gifts of greater value these must be politely refused. [bottles of wine?  Whisky?]  If this is difficult they must refer the matter to their line manager.

Hospitality

It is acceptable for staff to receive small promotional items, e.g. pens, calendars, diaries. However,

  • staff must not accept any offer of a gift or hospitality from any individual or organisation which stands to gain or benefit from a decision NHS Lanarkshire maybe involved in determining, or who is seeking to do business with NHS Lanarkshire.
  • staff must not accept any offer, by way of gift or hospitality, which could give rise to a reasonable suspicion of influence on their part to show favour, or disadvantage, to any individual, organisation or company.
  • staff should consider whether there may be a reasonable perception that any gift received by their spouse or partner or by any company in which they have an interest, or by a partnership of which they are a partner, can or would influence their judgement.

Note – the term ‘gift’ includes benefits such as provision of services at a cost below that generally charged to members of the public.

Modest hospitality may be acceptable provided it is normal and reasonable in the circumstances e.g. lunches in the course of a working visit. Any hospitality accepted should be similar in scale to that which the NHS as an employer would be likely to offer.

All other offers of hospitality should be declined.

Staff should register with their line manager all such modest hospitality which they wish to accept, using the hospitality register declaration form (Appendix 3). In cases of doubt, staff should seek advice from their line manager.

If the nature of the event dictates a level of hospitality which exceeds this, then the individual should ensure that their line manager is fully aware of the circumstances and approves their attendance. An example of such an event might be an awards ceremony involving a formal dinner. If the line manager grants approval to attend, the individual should declare their attendance in the register of hospitality held by their line manager. The approving manager must ensure that this will not result in any future conflict of interest.

If the individual is invited to an event in a private capacity (e.g. as result of their qualification or membership of a professional body), they are at liberty to accept or decline the invitation without referring to their line manager. The following matters should however be considered before an invitation to an individual acting in a private capacity is accepted.
a) The individual should not do or say anything at the event that could be construed as representing the views and/or policies of NHS Lanarkshire.
b) If the body issuing the invitation has (or is likely to have, or is seeking to have) commercial or other financial dealings with NHS Lanarkshire, then it could be difficult for an individual to demonstrate that their attendance was in a private and not an official capacity. Attendance could create a perception that the individual’s independence had been compromised, especially where the scale of hospitality is lavish. Individuals should therefore exercise caution before accepting invitations from such bodies and
must inform their line manager.
c) Where suppliers of clinical products provide hospitality it should only be accepted in association with scientific meetings, clinical educational meetings or equivalent, which must be modest, normal and reasonable in the circumstances and in line with what the NHS would normally provide. Any such hospitality should be held in appropriate venues conducive to the main purpose of the event. 

Sponsorship [should be] clearly disclosed in any papers relating to the meeting; products discussed should be described in relation to the Scottish Medicines Consortium, Formulary and the active promotion of clinical products is restricted to those in the Board’s Formulary and equivalent clinical product catalogues.

Any educational meetings hosted by suppliers must be approved by the line manager.

Before accepting an offer of hospitality the individual concerned should fill in a Registering Hospitality Declaration Form (attached as appendix 3) and have it approved by their line manager. A copy of the request form will be held as part of a Hospitality Register which will be available for scrutiny by the
NHS Board, Corporate Management Team, members of the public or press should they request such information.

Legume/pulse allergy

Allergy, General paediatrics

Legumes, pulses, beans…  Some terminology first: legumes are plants in family Fabaceae (or Leguminosae).  Pulses are (strictly) those cultivated for DRY seed, as opposed to green beans, broad beans etc that are eaten fresh.  Lentil simply describes shape (“like lens”).  So other examples of legumes are peanut, lupin, tamarind, carob, alfalfa!

Very common cause of food allergy, even excluding peanut! And varies across different cultures, depending on typical pulses used.  Fifth most common cause of food allergy in Spain.  In India, often a trigger of asthma/rhinitis when being boiled.  Cross sensitivity is seen, but not automatic, and hard to predict.

Soya allergy is sometimes seen in highly atopic babies, but otherwise actually pretty rare (except in Japan) – lucky, cause gets into lots of different things eg many breads.  Soya lecithin is a common additive, used to make texture more smooth, but usually only in very small amounts. Fermentation eg soy sauce appears to significantly reduce allergenicity, soya flour also seems less allergenic than soya milk, even though most of the allergens are cupins eg 2s albumin and would therefore be considered heat stable.

Lupin is used in some continental baked goods, for example packaged waffles.  A good proportion of peanut allergic children will be allergic to it too, but as lupin is not found very commonly most will never know or have a problem with it. A few restaurants (in UK and abroad) have lupin in their allergy menus.

A couple of lentil allergens have been identified including a vicilin and a lipid transfer protein.  In my experience pappadoms can often be tolerated – there is certainly evidence that autoclaving for 30 mins can affect binding, but these are only deep fried for a few seconds.

Both the known pea allergens are vicilins, hence cross reactivity with lentil.  Chickpea allergens however are not (one a prolamin, the other a cupin) – still, cross reactivity fairly common.

French beans have an LTP so potentially severe, and potentially fruit allergies too.  Green (mung bean) and red gram are cupins, black gram appears to be something else.

[Clin Rev Allergy Immunol. 45(1):30-46, 2013 Aug]