Table 5 Clinical recommendations for terminal 6q deletions

Full neurological examination, including balance

 + 

i

 + 

i

  MRI

i

i

i

i

Be aware of seizures

 + 

 + 

 + 

 + 

  EEG

i

i

i

i

Be aware of abnormal pain sensation

 + 

 + 

 + 

 + 

Vision assessment, including strabismus

 + 

a/i*

 + 

a/i*

  Be aware of coloboma/optic nerve hypoplasia

 + 

Hearing assessment

i

i

i

i

Cardiac ultrasound

 + 

i

 + 

i

Be aware of sleep apnoea

 + 

 + 

Be aware of cleft (soft) palate

 + 

Dental abnormalities

 + 

i

 + 

i

Assess feeding problems, including reflux and constipation

 + 

i

 + 

i

  Be aware of anal atresia

 + 

Renal ultrasound

i

i

i

i

Be aware of recurrent respiratory tract infections

 + 

 + 

 + 

 + 

Be aware of scoliosis

 + 

 + 

 + 

 + 

  X-ray to exclude vertebral abnormalities

i

i

 + ^#

i

Be aware of joint hypermobility

 + 

 + 

 + 

 + 

  Including hip dysplasia

 + 

i

 + 

i

Assess development

 + 

i

 + 

i

Be aware of sleeping problems

 + 

 + 

 + 

 + 

Assess behavioural problems

 + 

i

 + 

i