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Behavioral Characteristic of Patients With
Rubinstein-Taybi Syndrome
Poster Session
1998 International Family Conference on Rubinstein-Taybi Syndrome, Cincinnati, Ohio
Ingrid Taff, M.D.; Great Neck, New York
Shirin Z. Madad; Roslyn Harbor, New York
INTRODUCTION
Rubinstein-Taybi syndrome is a genetic syndrome of mental retardation associated with broad thumbs, big toes, characteristic facial appearance with beaked nose, prominent forehead, microcephaly and small maxilla.
The patient seen (in the accompanying video-tape portion of the poster session) presented to the office with multiple manneristic and ritualistic behaviors. They occurred virtually non-stop and were interfering with his
daily functioning.
Little or no information regarding behavioral abnormalities was available; therefore, this study was undertaken to:
- Establish the prevalence of the behavioral abnormalities.
- Identify the various behavioral deviations.
- Investigate usage/efficacy of pharmacological treatments.
MATERIALS AND METHODS
- A screening questionnaire was sent to 300 families of children with Rubinstein-Taybi syndrome. We received 152 responses.
- The questionnaire was geared to identifying autistic-like vehaviors, attention deficit hyperactivity disorder and aggression
CLINICAL VIGNETTE
The patient is a 4-2/3 year old youngster with Rubinstein-Taybi syndrome. He developed severe manneristic and ritualistic behavior at around the age of two as documented on the videotape. These behaviors escalated at
around the age of three and have persisted to date. The patient is in an intervention program receiving occupational therapy programming, receiving sensory integration and vestibular stimulation. His cognitive
progress has been slow.
Prior to starting any pharmacological approach for these behaviors, a MRI of the brain was obtained; no cerebral abnormality was found. The patient did have evidence of mastoid disease. Treatment for this condition
(decongestants and antibiotics) did not change the mannerisms. Over the past eighteen months, the following medications have been tried:
- Combination of magnesium, vitamin B-6 and Dimethylglycine
- Prozac (up to 3 c per day)
- Periactin (up to 1 teaspoon three times daily)
- Inositol
- Antivert
- Ritalin
No significant change was seen in the rituals/mannerisms but Ritalin improved his attention span and made him less motor restless. Any suggestions for a possible treatment would be welcomed.
RESULTS
The results of the questionnaire are as follows:
- 4.5% of the children were female
- 54.5% were male
- 77% of the children had repetitive motions such as flapping, spinning, etc.
- 68% were resistant to change
- 56.8% had an abnormal response to pain
- 48.5% had poor eye contact
- 40.9% were preoccupied with smelling, tasting, and feeling objects
- 72.7% of the children were distractible
- 56.8% had aggressive outbursts
- At least 1/4 had abnormal use of objects, excessive fears, difficulties relating to others and visual scrutiny
- 21% of the children had trouble sleeping
- 95 were on astimulant medication, but surprisingly, few RTS patients were treated with Selective Serotonin-Reuptake Inhibitors (SSRIs), anti-psychotics or anti-anxiety drugs.
CONCLUSION
Behavior abnormalities in Rubinstein-Taybi patients are more common and debilitating than was previously reported. To our knowledge, this survey represents the largest investigation of its kind. It appears that no
specific therapeutic approach has been established.
In view of this significant prevalence of behavioral difficulties and the tremendous burden this problem places on the parents (as evidenced by the responses on the questionnaire), we feel that
additional investigation is warranted, with special focus on specific treatment.
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