Hypermobility in children

Benign hypermobility is common in young children, but referrals are generally related to pain or discomfort in legs.

Differentials for presentation need to be considered as follows:

– Benign Hypermobility

– Ehlers Danlos syndrome

– Marfan Syndrome

– Muscle hypotonia

– Osteogenesis Imperfecta

– Rheumatoid Arthritis

– Ankylosing Spondylosis

– other Rheumatological conditions

 

Red flags include:

– Sudden death in family

– Heart murmur

– Bruising / bleeding tendency

– Weakness / hypotonia

– Abnormal neurology / ataxia

– Scoliosis

– Dysmorphism

History key enquiries:

– Which joints? Large or small? 

– Onset, duration & progress of symptoms

– What precipitates / relieves the pain?

– Any relief with analgesics? What doses? 

– Exercise tolerance & walking distance?

– Habit of ‘clicking or cracking’ joints?

– Any joint dislocations? Backache?

– Is balance and coordination affected?

– Handwriting/ dressing affected?

– Missing school days?

– Any joint stiffness? morning/ late evening?

– Any joint/s swollen / warm / red?

– Any muscle groups tight/ swollen?

– Weakness? Foot drop? Frequent falls?

– Difficulty going up/ down stairs?

– Easy bruising / prolonged bleeding?

– Associated constipation? dizzy spells?

Examination:

Is child well?

Growth- plot Ht, Wt, HC

Arm span / Height ratio

Marfanoid features? 

Dysmorphism? Scoliosis?

Blue sclera? Lens dislocation? Myopia?

Skin elasticity? Stretch marks?

P-GALS assessment* of joints

Gait including on tiptoe / heels

Balance & hopping on 1 leg

Examine joints (large & small)

– Redness, Stiffness, Warmth, deformities

– range of joint movements

– discomfort during passive movement

Beighton Hypermobility Score* >4

[& use Brighton diagnostic criteria]

 

Neurological exam in full

Systemic exam

– Chest deformity

– Heart murmur

Investigations:

Generally none required for benign hypermobility.

If indicated, consider

– Bloods:  U&E, Bone profile, PTH, Vit D, 

  ESR, TSH, AutoAntibodies, Rheumatoid Factor

– Genetic opinion, tests

– Ophthalmic assessment

– ECHO, ECG

 Bone health assessment: DEXA scan

– Spinal X-ray if scoliosis

– Wrist Xray for bone age

– Xray appearance of bones

Management:

– Formulate a diagnosis

– Consider appropriate investigations or referrals to reach diagnosis

– Use Brighton diagnostic score for BHS

– Use specific criteria for Marfan synd

– Understand co-morbidities

– Any functional difficulties?

– Analgesics do not usually help 

– Rest and distraction, massage, etc

– Physiotherapy for teaching strengthening exercises

Brighton diagnostic criteria

Diagnosis of Benign Hypermobility Syndrome requires two major criteria or one major and two minor criteria (in the absence of diagnosed Ehlers-Danlos or Marfan’s syndromes)

 

Major criteria

  •  Beighton score of 4 or more.
  •  Arthralgia for >3 months in four or more joints.
  •  

Minor criteria

  •  Beighton score of 1-3.
  •  Arthralgia for >3 months in one to three joints.
  •  Back pain for >3 months.
  •  Marfanoid habitus 
  •  Spondylosis/spondylolysis/spondylolisthesis.
  •  Dislocation/subluxation of more than one joint, or in one joint more than once.
  •  More than three soft tissue inflammatory conditions (eg, tenosynovitis, epicondylitis).
  •  Skin striae, thin skin, hyperextensible skin
  •  Varicose veins, hernia or uterine/rectal prolapse.
  •  Drooping eyelids, myopia or antimongoloid slant.