Category Archives: OPD

Plagiocephaly

Clinical, Common, General paediatrics, OPD

Differential

The clinical criteria for a unilateral lambdoid synostosis consist of an ipsilateral occipital flattening, a depressed ipsilateral ear lobe (inferior movement) and a parallelogram-like shape in the posterior view. All three of these signs were present in the eight synostotic infants. Furthermore, all children had developed a compensatory contralateral parietooccipital bulging that led to a slanted tree top-like shape of the head at follow-up. Normal posterior view (ie ears level) and anterior movement of the ear excludes LS [but photo looks like ipsi anterior movement in LS – is it contralat in PP??? No mention of anterior bossing, not obvious in photo].

German study – all LS cases obvious clinically. Where positional plagiocephaly was doubted, USS demonstrated patent sutures.

[Arch Dis Child 2015;100:152-157 doi:10.1136/archdischild-2014-305944]

Monitoring

Measure the oblique diameter left (ODL) and oblique diameter right (ODR) lines are drawn from points located 40° either side of the antero-posterior (AP) line. 40° is typically where deformation most notable.  Express as difference (the Oblique diameter difference (ODD) = ODL−ODR) or else ratio between the ODL and the ODR (oblique diameter difference index, or ODDI).

[European Journal of Pediatrics March 2006, Volume 165, Issue 3, pp 149-157]

Treatment

Dutch RCT of 6 months of helmet therapy (n=84 infants aged 5 to 6 months with moderate to severe skull deformation, exclusions were prems, muscular torticollis, craniosynostosis, or dysmorphic features). Full recovery was achieved in 10 of 39 (26%) participants in the helmet therapy group and 9 of 40 (23%) participants in the natural course group (odds ratio 1.2, 95% confidence interval 0.4 to 3.3, P=0.74). All parents reported one or more side effects.

[van Wijk RM BMJ 2014; 348 (); g2741]

Some evidence for bedding pillows (but SUDI risk?) and stretching exercises.

Lower limb variants

Clinical, Common, General paediatrics, OPD, Orthopaedic

Beware 2 problems, with additive or compensatory effects e.g. foot and hip!

Rotation probs ie in-toeing and out-toeing.

Metatarsus adductus is common.  Outer edge of foot is curved, and vertical line through heel misses 2nd/3rd toe space.  Rigid forms need serial casting, else 90% improve without treatment by 6-9 months of age.

Internal tibial torsion can be seen by keeping patellae parallel (sitting, or kneeling), and seeing angle of foot.  No treatment required unless severe (tibial rotational osteotomy).

Femoral ante version is more common in girls and often familial.  W posture sitting, patella points in, eggbeater pattern running.  80% resolve spontaneously, else osteotomy (but high rate of complications).

Out toeing normal in first 24 months.  Usually external tibial torsion; occ femoral retroversion.  External tibial torsion associated with patellofemoral instability.  Beware Perthes and SUFE in school age children, esp  unilateral.

Pes Planus – Flexible or rigid?  Arch reforms on tiptoeing?  Rigid suggests congenital vertical talus (rocker bottom heel) or JIA, either way, usually painful.  Beware CP or muscular dystrophy or connective tissue disorder.  Asymptomatic is considered benign.  Insoles may be useful for pain and shoe deformation, do not correct flat foot!

Angular problems ie genu varum/valgum

(Bow/knock)  Gap between knees (intercondylar distance) should be <6cm, gap between ankles (intermalleolar) should be <8cm.  Beware rickets, renal osteodysplasia, tumours, skeletal dysplasias.  Note association between high impact sport and genu varum – cause or selection?  Increased risk of injury/OA in later life…  Differential includes Blounts disease (also associated with obesity).

Knock knees exacerbated by external tibial torsion, ligamentous laxity, obesity.  Less typical pattern of rickets but seen.

[Yeo, BMJ 2015;351:h3394 – videos too]

 

Henoch Schonlein Purpura

Common, Dermatology, General paediatrics, Immunology, OPD, Renal, Rheumatology

or HSP. Usually preschool but any age! Boys more than girls. Vasculitis, leucocytoclastic with IgA predominance. EULAR criteria 2010.

Features:

  • Urticarial rash becoming purpuric but still raised (pathognomic), predominantly on lower limbs, especially extensor surfaces incl buttocks, but sometimes trunk, rarely face (infant).  Accompanying soft tissue swelling, as seen in photo in feet.
  • Arthralgia (not migratory, cf acute rheumatic fever)
  • Abdo pain, diffuse, colicky, often severe – possible intussusception, melaena
  • Proteinuria (30+ mmol/mg albumin:creatinine ratio), 2+ red cells on dip or 5+ on microscopy (or casts) indicating glomerulonephritis, usually asymptomatic cf streptococcal, but a few develop diffuse proliferative lesions with irreversible renal damage.
  • Scrotal rash/bruising common, rarely torsion
  • Rarely encephalitis, seizures, pulmonary haemorrhage

Pathology

Leukocytoclastic vasculitis with glomerular mesangial IgA deposits.  Biopsy of patients with IgA nephropathy identical, and indeed both groups have defective IgA1 glycosylation, which may explain why they may aggregate and precipitate IgA in small vessel walls as well as in the glomerular mesangium.

Complications

Complications and relapse associated with age esp over 6yr. 50% relapse, usually within 6 weeks but can be up to a year later; 50% of those will relapse more than once. Treat with NSAIDs (unless renal involvement!) for joint pain, analgesics for abdo pain. Small study from Turkey found that Ranitidine reduced symptoms.

Steroids (prednisolone 1-2 mg/kg/day for 1-2 weeks) are suggested (grade 2 recommendation) within 3 days of onset of severe abdominal pain (defined as pain requiring hospital admission) or acute GI bleeding – after exclusion of intussusception, of course.

Steroids are also suggested for orchitis, after excluding torsion.

Reviewing 101 children with abdo involvement those who did not receive steroids had an average of 5 days of abdominal pain, whereas all those treated recovered within 24 to 48 hours of starting steroids (letter, J Pediatr Gastroenterol Nutr. 31(3):323-4, 2000).

Abdominal pain is a predictor of renal involvement, so maybe that’s the best reason for giving steroids… (Kidney Int 1998; 53:1755-9).

Renal disease

20 to 90% risk of renal disease, but generally mild (mostly just mild proteinuria and/or haematuria)! Normal urinalysis at day 7 has 97% negative predictive value for chronic renal disease [PLoS One 2012;7:e29512].

About 56% of those children with renal disease develop signs and symptoms of renal disease a week or more after presentation, although generally in first month.  Can be up to 6 months later.  Incidence of renal failure in HSP nephritis is just 2 to 5%.  Risk factors are severe abdominal pain (OR=2.1), age >8yrs (OR=2.7), and relapsed HSP (OR=3).[Arch Dis Child. 2010 Nov;95(11):877-82. doi: 10.1136/adc.2009.182394]

A normal urinalysisNB Children who appear to recover may have significant renal disease many years later. (Lancet. 339:280282, 1992).

If more than 50% crescents on biopsy, then poor prognosis.  Only 1% get that far.

Archimedes in 2012 found 3 RCTs of steroids, treatment courses 2-4 weeks, seemed to shorten duration of abdominal pain, with most obvious effect when used early.

Dudley trial of early steroids (day 7) failed to find any benefit at 12 months (n=352).  Quite a high proportion of drop outs unfortunately, but prob not enough to influence results.  Doesn’t answer question of what to do if severe disease at onset eg nephrotic range.  [Arch Dis Child. 2013 Oct;98(10):756-63.]

Non-randomized prospective clinical trial of 223 kids showed that steroids were effective in reducing the severity of abdominal and joint pain and in treating renal disease – steroids did not prevent the development of nephritis [Archives of disease in childhood. 2010;95:877–82, doi: 10.1136/adc.2009.182394 ].  Previous systematic review suggested that steroid treatment at diagnosis did not reduce the median time to resolution of abdominal pain but did significantly reduce the mean resolution time, and increased the odds of resolution within 24 hours.

There is no proven benefit of corticosteroids in the treatment of established HSP nephritis (2009 Zaffanello systematic review, evidence is poor), but used anyway.

The major risks of corticosteroid treatment in children with HSP are masking an acute abdomen or intussuception, and GI bleeding.

Follow up

UK Kidney association guideline 2022 – for uncomplicated presentation, do frequent dipstick checks, for example weekly for first 4-6 weeks then monthly. BP check at presentation and then if evidence of nephritis. No need for parents to check at home otherwise. 6 months minimum (audit criteria, rather than recommendation).

If hypertensive or urinalysis pos, then do proper urine protein:creatinine ratio, U&Es, MC&S. Isolated haematuria is benign. As soon as urinalysis becomes normal, child can have routine follow up.

Scottish guideline was that persisting proteinuria of + or more needs more frequent follow up eg 2 weekly, 2 monthly then 3 monthly with the second line investigations.

Refer urgently for confirmed hypertension, or nephrotic range proteinuria (P:CR over 200mg/mmol).

Refer for biopsy if persisting severe proteinuria (UP: UC >250 mg/mmol for up to 4
weeks), persisting moderate proteinuria (UP: UC 100–250 mg/mmol for 3 months),
AKI stage 1 or greater (creatinine >1.5 × previous baseline or >1.5 × upper limit of normal for age). Treatment depends on histology and severity of clinical features.

ACE inhibitor is suggested (grade 2 recommendation) for persisting mild/moderate proteinuria.

A systematic review found no risk of long-term renal impairment in children with Henoch-Schonlein purpura with normal or minimal urinary findings without nephritic or nephrotic syndrome or renal failure (Arch Dis Child 2005;90:916-20). If urine analysis is normal at presentation, then test for 6 months after the last symptoms. If there is renal disease at presentation, then the risk for progression seems to be more associated with rising proteinuria during follow-up rather than presentation features. (Am J Kidney Dis 2006;47:993-1003)

Vitamin D

General paediatrics, Nutrition, OPD, Orthopaedic

=colecalciferol.  Essential for bone health.

Obtained from sun exposure to the skin.  Only a few dietary sources – oily fish, cheese, egg yolk, fortified cereals. Diet more important for calcium, of course. Once you apply sun screen, you don’t make vitamin D any more so there is a conflict with the potential for skin solar damage including cancer.

Children under 5 considered a high risk group, along with pregnant, pigmented skin, northern latitudes, wearing concealing clothing, being housebound etc.

2021 Scottish government advice is that everyone consider taking a Vitamin D supplement, particularly between October and March, but that all year round supplementation should be taken by:

  • all pregnant and breastfeeding women
  • all infants and children under 5 years old
  • people who have low or no exposure to the sun, for example those who cover their skin for cultural reasons, are housebound, confined indoors for long periods or live in an institution
  • people from minority ethnic groups with dark skin such as those of African, African-Caribbean and south Asian origin, who require more sun exposure to make as much vitamin D

2017 chief medical officer (CMO) advice – all babies from birth up to one-year-of-age should be given a daily supplement of 8.5 to 10μg vitamin D with Healthy Start vitamin drops being the recommended choice of vitamin, other than babies who are formula fed getting at least 500ml per day, as infant formula already has added vitamin D.

Nonetheless, breastfeeding is preferred – supplementation needed for breastfed infants given lack of sunlight in the UK (probably only useful sun exposure in Scotland between April and September, and between 11 and 3pm).

Children aged 1-4 years old should be given a daily supplement containing 10mcg of vitamin D.

“Healthy Start” vitamins preferred – made for  NHS,  available free to those on income support,  contains recommended dose (approx 300 units) .

Standard prevention dose is 300-400u (10mcg) (neonates), between 400u and 1000u (over 1/12) per day.  Over the counter multivitamins often contain surprisingly little Vitamin D.  Drops, tablets, sprays all available.

Many vitamin D preparations around this dose contain calcium, which may improve efficacy in fracture prevention, but some people won’t like.  Fultium D3 capsules have 800u (20μg) vit D and no calcium.

Symptoms

Aches and pains, delayed walking, seizures and tetany, genu valgum/varum, muscle weakness (incl cardiomyopathy).  The classic features of rickets are bowed legs, rachitic rosary (expanded costochondral junctions), pectus carinatum, curvature of the spine, expansion of the metaphyses at the wrist/ankle, poor dentition.

Testing

Historically deficiency defined as 25hydroxyVitaminD below 25nmol/L. But debated what is optimal.  NICE CKS uses this figure, and defines ‘insufficiency’ as between 25 and 50 nmol/L.

Treatment

Vitamin D3 preferred – D2 sometimes used.

If rapid correction needed eg deficiency with symptoms, fixed loading dose used for 8-12 weeks:

  • 1-5 months: 3000 IU
  • 6 months -11 years: 6000 IU
  • 12yr+: 10 000IU. Single/divided oral dose totalling 300 000IU can be considered if compliance issues.
  • After that, standard prevention dose as above unless significant lifestyle changes to improve Vitamin D status.

Otherwise 400-600IU daily from age 1 month to 18 years. Buy over the counter unless for chronic condition that leads to deficiency.

Assess need for calcium supplementation eg milk allergy. Online calcium calculators available.

Colecaciferol liquid available (3000u/ml), tablets come in 1000u doses and higher.  The combined VitD/Cal tablets tend to have lower Vit D doses and may not be tolerated.

Weekly doses, or single megadoses (30x daily dose) have been recommended where compliance a concern. Intramuscular ergocalciferol 7.5mg (300,000 units, 1ml) can be given in special situations.

Alfacalcidol is used in chronic kidney disease, needs specialist advice and careful monitoring.

Monitoring

Repeat measurement of serum 25 OH vitamin D is not usually necessary, and certainly not within 3 months of starting treatment unless agreed with the duty biochemist.  Check compliance eg empty bottles?

Continue supplementation until child has stopped growing.

Vitamin D deficiency in children | Health topics A to Z | CKS | NICE

Diabetes

Endocrinology, General paediatrics, OPD

Updated NICE guidance 2016.  Characteristics:

  • random glucose >11,
  • polyuria, polydipsia,
  • excessive tiredness,
  • weight loss.

WHO 1999 criteria – fasting normally <5.6, >7 diagnostic.  Random >11 diagnostic (assuming there’s nothing sticky on the finger tested!!!).  Glucose tolerance test (starts with fasting level) 2hr level >11.1 diagnostic, 7.8-11.1 is impaired glucose tolerance.

False positives – infection, recent surgery, uncontrolled thyroid disorder, starvation.

Epidemiology

Increasing rates in Europe. Scotland rate second only to Scandinavia.  Marked increase in under 5s. Aiming for routine pump therapy within a few months.

Subtypes

Type 2 more often in S Asian, Hispanic, Afro-Caribbean.  Clue is raised c-peptide – as this is co-produced with insulin, it means there is still endogenous insulin being produced (and cleared at more consistent rate than insulin, so more reliable, esp if on exogenous insulin).  C-peptide also used to look for insulinoma or factitious hypoglycaemia.  May also predict glycaemia control, complications and response to hypoglycaemic agents.

LADY – latent autoimmune diabetes of the young. More common? Different HLA type. Antibody positive but insulin sensitive and slow progress.

MODY – inability to produce insulin but normal beta cells.  Eg KIR 6.2 mutations, within months of birth.

Management

Reduced ideal HbA1c target – 48mmol/l (6.5%).  

No DAPHNE for kids.

Multiple daily injections from diagnosis, with level 3 carbohydrate (CHO) counting education, blood ketone testing strips.  Other regimens eg BD, TDS only for where problems with compliance.  See also pumps.

NICE guidance now includes Type 2 – suspect if strong FH, obesity, black/Asian origin, minimal insulin requirements (<0.5u/kg after “partial remission phase”), evidence of insulin resistance (viz acanthosis nigricans).

BMJ NICE diabetes infographic

Optimal blood glucose range is 4-7 on waking and between meals; 5-9 after meals; 5+ when driving.  At least 5 tests per day recommended, more frequently during physical activity and illness.But take into account:

  • risk of hypoglycaemia;
  • competitive sports;
  • need to lose weight;
  • life goals (careers, exams, foreign travel);
  • any relevant co-morbidity.

Monitoring

Annual thyroid, hypertension, albuminuria checks from diagnosis; retinopathy testing from age 12.  Type 2 don’t need thyroid but do need dyslipidaemia.

School

Most schools happy to give insulin. But no legal requirement. Lancets for school retract into cartridge.

Self-Efficacy

Encourage ownership of meters etc, downloading at home. Over 14 to get access to SCI-DC, as adults.

Constipation

Common, Gastro, General paediatrics, OPD, Psychology

Consider constipation if:

  • episodes of faecal incontinence (stains or smears in pants, potentially larger accidents),
  • retentive posturing (standing or sitting with their legs straight and stiff or crossed legs, some will sit on their own heel),
  • occasional massive but soft stools that virtually obstruct toilet.

Not just hard painful infrequent stools! Beware also dyschezia, where baby appears to strain at stool but not actually hard/large.

In a population-based prospective birth cohort, where dietary types were extracted from questionnaire, adherence to a ‘Western-like’ dietary pattern was associated with a higher prevalence of constipation up to 48 months [aOR 1.39; 1.02-1.87], which was not mediated by overweight or sedentary behaviour. Adherence to a ‘Health Conscious’ dietary pattern was only associated at short term, with a lower prevalence of constipation at 24 months (aOR; 0.65; 0.44-0.96). This suggests that specific dietary patterns in early childhood could be associated with higher or lower risks for constipation, but these effects are time-dependent. [Maternal & Child Nutrition. 9(4):511-23, 2013 PMID: 22288911]

Straining is not a criteria, in NICE, interestingly, although it is in Rome III criteria!

Red flags:

  • multiple anal fissures,
  • gross abdo distension,
  • tenderness with guarding,
  • abnormal lumbosacral or lower limb findings,
  • failure to thrive
  • ribbon like stools (?anal stenosis)
  • etc

“Do not use dietary interventions alone as first-line treatment for idiopathic constipation” – because no evidence that it helps! But yes, adequate hydration and fibre important (whole grains, fruit/veg, pulses).

NICE recommends Movicol/Laxido (macrogol) as first line, combining with a stimulant (picosulfate, biscodyl, senna) as second line. If macrogol not tolerated, use stimulant +/- softener (lactulose, docusate).

Warn that pain and soiling gets worse before getting better!

Review of adherence and dose important.

Toilet training eg diary, reward system, regular post prandial sitting 5 mins +/- feet on hard surface eg stool.

“Poo should be as soft as toothpaste and should come out like a snake” (Snakes and ladders booklet, Kidney Kids Scotland). Tell your teacher if no toilet paper/soap or broken seat/locks etc.

Soiling

Typically, episodes of soiling (large and small) are due to overflow of liquid stool past a large impacted stool in the rectum.  The child is unable to control, due to the distortion of the rectum.

However, children often try to deny being aware of soiling, despite the obvious smell or discomfort – this is simply a coping method, and normal sensation is usually easy to demonstrate.

The diagnosis is easier in the presence of a large suprapubic mass, or a rectal mass on digital examination.  Some children however soil for attention, without any bowel or rectal disorder.

The presence or implication of a large rectal mass requires disimpaction – an escalating regimen of a paediatric formulation of macrogol (Laxido or Cosmocol are cheaper than Movicol) as per NICE guideline 99 (doses and licensing may differ from product literature):

  • Child under 1 year: ½-1 sachet daily (non-BNFC recommended dose)
  • Child 1-5 years: 2 sachets on 1st day, then 4 sachets daily for 2 days, then 6 sachets daily for 2 days, then 8 sachets daily (non-BNFC recommended dose)
  • Child 5-12 years: 4 sachets on 1st day, then increased in steps of 2 sachets daily to maximum of 12 sachets daily (non-BNFC recommended dose)
  • If macrogol not tolerated, use stimulant laxative eg picosulfate +/- lactulose

If no progress after 2 weeks add stimulant laxative eg senna, picosulfate, bisacodyl, docusate.

Enemas eg citrate can prevent megarectum where prolonged medical treatment fails.

Polyethylene glycol licensed for distal intestinal obstruction!?

Maintenance

I suggest half disimpaction dose for maintenance.

Preferred treatment is paediatric formulation of macrogol (Laxido or Cosmocol are cheaper than Movicol) as per NICE guideline 99 (doses and licensing may differ from product literature).

  • Child under 1 year: ½–1 sachet daily (non-BNFC recommended dose)
  • Child 1–6 years: 1 sachet daily; adjust dose to produce regular soft stools (maximum 4 sachets daily) (for children under 2, non-BNFC recommended dose)
  • Child 6–12 years: 2 sachets daily; adjust dose to produce regular soft stools (maximum 4 sachets daily)
  • If macrogol not tolerated, use a stimulant laxative eg sodium picosulfate (5mg/5ml, NICE recommended doses):
    • Child 1 month to 4 years: 2.5–10 mg once a day
    • Child/young person 4–18 years: 2.5–20 mg once a day
    • Add lactulose or docusate if stools hard

For babies, Senna and lactulose from age 1/12.

At least 3/12 of maintenance before weaning if disimpaction required initially.

I always highlight that laxative use does not induce dependency, rather, that chronic constipation is unlikely to improve without adequate treatment.

Review regularly – symptoms, toileting, taking medication.

Continue maintenance treatment until regular bowel habit established for at least a few weeks or until toilet trained. Do not stop dose abruptly.

General advice re balanced diet including fruit, vegetables, high-fibre bread/breakfast cereals, baked beans, regular toileting, exercise, sufficient fluid intake (1000-1400ml age 4-8yrs, 1200–2100ml age 9–13yrs).

Involve Health Visitor in pre-school group.

Consider trial of milk exclusion (to rule out cow’s milk protein allergy if intractable (ESPGHAN 2023).   Coeliac disease, hypothyroidism, cystic fibrosis, Hirschsprung’s disease and hypercalcaemia also come into the differential.

Surgery

Rectal biopsy indicated if delayed meconium at birth (ie >48hrs), Downs, enterocolitic episodes.

Anal fissures have high spontaneous healing rate with medical treatment.

Manual evacuation under GA may be required if resistant. No benefit on RCT for anal dilatation. Small RCT found botox as good as internal sphincter myectomy for refractory constipation.

Appendicostomy or caecostomy antegrade colonic enema (where bowel irrigated using catheter) has a role in refractory cases after age 6yrs. QOL, continence improve but appreciable morbidity.

Relapses more common in boys, under age 4, background of psychosocial or behavioural probs, encopresis. 1/3 of post pubertal children continue to have severe problems.  See also parenting and constipation.

Parent information

ERIC website – www.eric.org.uk

[NICE clinical guideline 99 – constipation in children and young people (Published 2010)]

[BMJ 2012]

Chronic fatigue syndrome

General paediatrics, Mental health, Neurology, OPD, Psychology, Rheumatology

NICE update 2021 a bit depressing:

  • Therapy based on physical exercise should NOT be offered “as a cure”, nor should graded exercise programmes (which by definition use fixed increments in exercise) be used!
  • Instead, self management, flexible and tailored
  • CBT should only be offered to manage symptoms, improve functioning and reduce distress.
  • Talks about “energy management” – includes emotional, social, cognitive.
  • “Care and support plan” – physical activity including mobility but also activities of daily living.  Plan periods of rest and activity, and incorporate the need for pre-emptive rest.  Management of relapses and flares.

Main thrust of update is that CFS/ME is a complex, chronic medical condition affecting multiple body systems and its pathophysiology is still being investigated. It affects everyone differently and its impact varies widely – for some people symptoms still allow them to carry out some activities, whereas for others they cause substantial incapacity.  It is a fluctuating condition in which a person’s symptoms can change unpredictably in nature and severity over a day, week or longer.

Often it profoundly affects different aspects of the lives of both people with ME/CFS and their families/carers including social life, emotional wellbeing and education.

Another big theme is prejudice, disbelief and stigma experienced by patients.

US IOM expert panel have rejected the name “chronic fatigue syndrome”, as patients hate it!  Myalgic encephalitis (ME) also rejected on basis of insufficient evidence that this is the pathological process.  They suggest “Systemic exertion intolerance”, which is probably even more rubbish, in my opinion.

Diagnostic criteria: all of the following 3 [BMJ 2015; 350]

  1. Substantial reduction/impairment in pre-illness levels of activity, that persists for more than six months [NICE 2007 says 3/12 for children], and accompanied by fatigue (often profound, new or definite onset, not the result of ongoing excessive exertion and not substantially alleviated by rest)

  2. Worsening of symptoms after any type of exertion (including cognitive and emotional stress) – “post-exertional malaise“

  3. Unrefreshing sleep, and/or sleep disturbance.

In addition, should have at least one of:

  • Cognitive impairment

  • Orthostatic intolerance.

Doesn’t mention chronic pain?! NICE says reconsider diagnosis in absence of cognitive difficulties or chronic pain.

Causes

Evidence (reproducible) implicating certain infections as a trigger. Co-existing mood disorder in substantial proportion of patients, sometimes sleep-wake disorder – likely to perpetuate/exacerbate.

Brain imaging has identified alternations suggesting that it is a brain problem.

Investigations

[NICE 2007]

  • Urinalysis
  • FBC, LFTs
  • TFTs
  • Coeliac disease screening
  • CK
  • ESR/CRP
  • Glucose
  • Ferritin

NOT microbiology unless indicated: borrelia, HIV, Hepatitis viruses, EBV, CMV, toxoplasmosis

Management

Exercise

Cochrane review of graded exercise therapy – may benefit sleep, physical function, self-perceived general health, and no evidence that it worsens outcomes. Curiously, no evidence for loss of aerobic fitness! Perhaps graded exercise tackles a hyper-reactive CNS response to exercise-related physiological signals. Note that fear of physical activity becomes conditioned when it commonly exacerbates symptoms.

Warn that exercise programmes can make things worse rather than better. Exercise should only be done as part of supervised programme, with physiotherapist – don’t just tell them to go the gym more! Start below baseline activity level.

Other

Relaxation techniques recommended by NICE.

CBT – should only be offered to manage symptoms, improve functioning and reduce distress.  Again, not a “cure”. Analysis of both CBT and graded exercise suggests that benefit comes from reducing inactivity.

Sleep hygiene important.  Include rest periods in plan but avoid day time naps, especially since sleep doesn’t usually help anyway!

Many people find exclusion diets useful, esp bowel symptoms, not recommended but involve dietician if attempted anyway.

Equipment to maintain independence can improve quality of life and should be part of overall management.

Beware boom-bust! Many patients over do it when they have a period of relative wellness. Flares and relapses are to be expected.  Trigger? New medical problem? Adjust plan as necessary.

Pain and orthostatic intolerance are big issues for some people.

Severe CFS can increase risk of pressure ulcers, DVT, vitamin D deficiency and contractures.

Prognosis

Important to be honest at time of diagnosis.  More optimistic in young people.  Most adults improve, some are able to return to usual activities but others experience long term symptoms or relapse.

PACE trial aimed for less than full restoration of health as “recovery”, future trials should use clinically relevant improvement and patient self-perception.

[bmj 2015;350:h2087]

[NICE 2021] 

2010 Scottish Good Practice statement needs update.

Gilbert’s syndrome

Common, Gastro, General paediatrics, OPD

Gilbert’s syndrome is an hereditary, chronic/episodic, mild unconjugated hyperbilirubinemia.  Due to impaired hepatic bilirubin clearance (glucuronyltransferase deficiency).  Otherwise liver function is normal.

It does not cause chronic liver disease. Non pruritic.  Jaundice may be provoked by fasting, surgery, dehydration, alcohol ingestion, infectious illnesses, heavy physical exertion, and lack of sleep.  Symptoms eg tiredness are due to exacerbating condition, not high bilirubin!

Common, 2–10% of the general population, many undiagnosed. At least 30% of people with Gilbert’s syndrome never develop symptoms.

Gilbert’s syndrome can be diagnosed when the person has:

  • Unconjugated hyperbilirubinemia (on at least 2 occasions, and not progressing).  Conj bilirubin may be sl high but always less than 20% of total.
  • Bilirubin is less than 3x upper limit of normal (approx 60).
  • No evidence of haemolysis (normal full blood count, reticulocyte count, blood film, Coombs’ test, haptoglobin level, and lactate dehydrogenase level).
  • Normal liver enzyme levels.
  • No clinical evidence of liver disease.
  • Commonly homozygous for allele 7.

Differential is Crigler Najjar type 2 – can cause persistent jaundice in childhood (cf type 1 = severe jaundice in first few days of life).

No treatment is required.

Some drugs should be used with caution in people with Gilbert’s syndrome:

  • Atazanavir and indinavir.
  • Gemfibrozil.
  • Irinotecan.
  • Statins when combined with gemfibrozil.

[NICE clinical knowledge summary]

Parent/family information at https://childliverdisease.org/liver-information/childhood-liver-conditions/gilberts-syndrome/

Attention Deficit & Hyperactivity Disorder

Community, OPD, Psychology

ADHD defined as at least 6 months of

  • Inattention,
  • Hyperactivity,
  • Impulsivity.

ICD requires all 3, DSM requires just 1.

Plus,

  • social and/or academic difficulties not explained by anxiety or depression,
  • child should be under 7 yrs.

DSM does not give guidance on assessing severity. UK guidelines do not mention mild ADHD.

Commonly associated with peer rejection, increased risk of injury. Long term, less likely to enter higher education or find employment, more likely to have delinquent/criminal behaviour, more likely to smoke, use alcohol and illegal drugs.

There is high concordance for monozygotic twins, which supports a genetic cause. There are also MRI/PET lesions, which support a physical cause (cortical abnormalities in the frontal, temporal, and parietal lobes, Lancet 2003). It is 3 times more common in boys. It may be related to traumatic experience in infancy.

There are rating scales eg Conner’s ADHD index, which is 94% sensitive.

Examples of inattention:

  • Careless mistakes
  • Does not seem to listen when spoken to directly
  • Does not follow through instructions (NOT simply oppositional)
  • Avoids sustained mental effort
  • Loses things necessary for tasks/activites

Examples of hyperactivity/impulsivity:

  • Fidgets, squirms, leaves seat when expected to remain
  • Runs about, climbs in appropriate situations
  • Acts as if “driven by a motor”
  • Blurts out answers before question finished
  • Interrupts, intrudes on others

There should be impairments in at least 2 settings eg school and home.

Management

Parent training programmes are effective for preschool children.

Methylphenidate, a dopamine agonist, is effective, esp for concentration, hyperkinesis and impulsiveness. Clonidine has been suggested.

Behaviour modification (NOT cognitive behavioural) is effective for age 6yr+ only when combined with medication.

Hyperactivity tends to improve over time, but there are associated antisocial behaviours and learning difficulties long term. The longest trial showed better performance up to 8yrs after entry (compared with baseline), but still underperforming compared with peers.

A diagnosis can help parents but also carries stigma: children with ADHD are perceived as lazier and less clever by peers, and teachers/parents have lower academic expectations.

BMJ 2013;347:18a