Clinical Checklist in Rett Syndrome 2002

1. DIAGNOSIS

 Make the diagnosis:
This is based on the clinical presentation, confirmed in most cases by finding a mutation on the MECP2 gene, although the failure to detect a mutation does not preclude the diagnosis. 

Chief clinical features:
Normal appearance and head circumference at birth; slow development from birth with some progress in the early weeks or months; usually suboptimal head growth in infancy; stagnation or regression in hand use and communication at 1-3 years, with hand stereotypy, other involuntary movements and irregular breathing. Muscle tone reduced initially, increasing later. Following regression the child becomes happier, learns new skills and brain growth resumes. The later course is essentially stable but skills are fragile and easily lost in these extremely vulnerable people.

Mosaicism & variation in the pattern of X inactivation
and a range of mutation sites on the gene lead to a wide range in severity. However, if the presentation is NOT typical for Rett and no mutation is found, consider the different diagnosis including congenital malformations, early onset metabolic disorders, neoplasia, Angelman’s syndrome and autistic disorders.

 

2. GENERAL ADVICE

This individual may live in good health into old age. Most will be highly dependent but some will develop speech, hand use and good motor skills.

Before & during regression:
Although skills are present they may be quite slight and the final severity may not yet be apparent. The family needs understanding and support. The child needs loving and gentle care, plenty of face to face contact and encouragement to use the skills without pressure, reducing stimulation when the child is agitated.

Referral should be made to the Regional Centre for Clinical Genetics for family counselling.

Complete review & reassessment of health needs is advised at least every 3 years throughout life.

Medication:
Very few medications have so far been proved to be of value (2002). Beware of medication overload and study the evidence for efficacy, toxicity and drug interaction before prescribing.

Home held records:
Every health professional should provide the family with a written copy of his/her advice and these records should be retained throughout childhood and adult life.

Parents, siblings & Grandparents:
require sensitive support from professionals, other families. Flexible respite should be available day and night and in holiday periods. Lifting, bathing and mobility aids will be necessary.

Rett Associations:
Exist worldwide and offer valuable support and information.

 

3. SPECIFIC ISSUES

Breathing rhythm:
is unstable, usually normal asleep and abnormal on alerting. Apneustic breathing (prolonged inspiration) often predominates in the youngest and Valsalva breathing in older women. Shallow breathing, breath holding and central apnoeas may lead to severe hypoxia. These are entirely outwith the control of the individual. Buspirone may reduce apneusis. Currently no other medications have proved effective (May 2002).

Non epileptic vacant spells:
are more frequent than epileptic seizures in Rett and are due to reduced brain stem cardio-respiratory control. This may lead to episodes of loss of Consciousness, which may be difficult to differentiate from epilepsy, and may require concurrent monitoring of central autonomic function with electroencephalography. Vagal tone and baroreflex sensitivity is usually reduced.

Abdominal distension:
due to aerophagy, commonly accompanies the abnormal breathing, very severe casts may be helped by per-cutaneous gastrostomy.

Cold feet:
are due to inadequate parasympathetic restraint of the sympathetic system. If severe, with breakdown of skin, chemical or surgical sympathectomy may be justified.

Dystonic spasms:
are common. Gentle massage may be more effective than medication.

Osteoporosis:
has been reported in Ret even inactive people. A balance must be found between providing active movement, which is essential for health and adequate protection from trauma.

Periodic unexplained agitation, laughing or crying:
is common and may be associated with the poor central parasympathetic restraint. It is helped be a quiet and relaxed atmosphere. Agitation is also the means to express any pain, irritation, discomfort, distress, anger, frustration or boredom and such causes must be carefully excluded. Sedatives and antipsychotics should be avoided. Short term use of a serotonin reuptake inhibitor may be helpful in extreme cases.

Sleep disorder:
may include failure to go to sleep, night time waking and day time sleeping. Active days help to ensure quiet nights and bed time routines are helpful. The individual should sleep alone with a “baby alarm” if necessary and intervention should be minimal. The room should be warm and safe to move about in without risk of injury. Melatonin may help to establish a routine

 

4. CHECK AT EACH REVIEW

Posture & joint position:
are apt to deteriorate due to initial hypotonia and later hypertonia. Shoulders, hips, knees and ankles are at constant risk from increasing muscle tone and restricted movement patterns. Regular passive and active exercise and attention to positioning and seating are important. Light splinting may help but should not limit activities. Consult occupational and physiotherapists (OT & PT).

Scoliosis:
is common. Back position is apt to deteriorate during growth spurts. Light splinting may help in curves under 4o degrees. Surgery is indicated for more severe or progressing curves. Consult the orthopaedic scoliosis surgeon as soon as a curve appears, OT & PT.

Frequent physical activity:
is essential, walking when possible. Active movement, well supported, in a warm pool and closely supervised pony riding is helpful. Consult CT & PT.

Feeding difficulty:
is common and may worsen with increasing muscle tone. Poor weight gain and episodes of aspiration require fluoroscopic examination and pH studies. In severe cases Per cutaneous gastrostomy (PEG) should be considered. Persistent reflux may need surgical correction. Weight should be maintained in the appropriate range for height. Consult gastroenterologist, dietician, OT, ST.

Constipation:
is common, possibly due to poor parasympathetic regulation of bowel activity and usually responds to increased fluid, fruit, fibre, encouragement to habit toilet training and physical activity. Gentle massage may be helpful. Consult dietician, OT & ST.

Epilepsy:
is present in about 50% and may remit. Generalised motor or partial seizures respond to medication according to type. Since the electroencephalogram may he epileptogenic without clinical epilepsy, video during prolonged recording may be necessary to distinguish epilepsy from non-epileptic vacant spells (see previous). Check seizure control and medication at each visit. Expect to wean off anticonvulsants if seizures become infrequent.

Hand stereotypy:
is involuntary and increased by alerting. It can be ignored unless injury occurs, when a light elbow splint may be used to prevent injury with minimal interference. Task performance may improve with one hand gently held (only during the task).

Hand skills:
are usually poor (dyspraxic) but improve given opportunity and encouragement. Gentle massage of the hands just before a task may encourage use e.g. holding a mug or spoon within the adult’s hand in feeding.

Communication:
is of primary importance for the well being of the individual. Assess capacities to understand speech, signs, symbols and written works and to find expression in words and signs. Face to face communication is good and usually more important than mechanical aids. One to one musical interaction is particularly valuable, encouraging choice, self expression, shared pleasure and control of the hands and voice. Consult music therapist, OT, VF & ST.

Vision:
should be regularly assessed by an optometrist/orthotist and hearing by an audiometrician.

Dental care:
ensure regular tooth cleaning and visits to the dentist.

LONGER TERM ISSUES:

Regular well woman checks: should be carried out throughout adulthood.

When a family cannot care for an individual at home a small home environment should be provided close to the natural home. A gradual change is advisable from respite to residence.

Tissue donation is the basis of much of the research, which will benefit families and people with Rett Syndrome. Families may wish to donate tissues at operation or in case of death and this can be arranged with the MRC tissue bank, Hammersmith Hospital, London. Tel (day): 0207 848 0290 and (night) 0207 848 0001 leaving a message for the ‘on call Brain Bank staff’ and through the Rett support organisations.

This checklist was compiled by Alison Kerr in consultation with colleagues Hilary Cass, Lyn Weeks, Vicky Slonims. Gail Bridgman and Alison Wisbeach. Further suggestions welcome to:

Dr AM Kerr
Senior lecturer
Honorary Consultant in Paediatrics & Learning Disability
Academic Centre
University of Glasgow Department of Psychological Medicine
Gartnavel Royal Hospital
1055 Great Western Road
Glasgow G12 0XH

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