Kabuki Syndrome Network 2001 Survey Results - The Frequency of Birth Defects, Neurobehavioral and Social Challenges

Parent and professional support groups are an important resource for families who have children with multiple congenitali anomalies, family physicians and other health care providers. In 2001, members of the Kabuki Syndrome Network (KSN), a support group for families of individuals with Kabuki Syndrome (KS) were surveyed by means of a questionnaire sent via e-mail or regular mail. The survey was to determine the frequency of various features in KS. Two hundred and eighty five potentially present KS features were listed on the questionnaire and parents were asked to respond "Yes", "No" or "Unknown". Two hundred and fifteen questionnaires were sent out and fifty three were returned. The results were entered into an Access database for analysis. The frequency of a characteristic was calculated as number of "Yes" responses divided by the total number of responses excluding the "unknown" or non-applicable responses. Preliminary results were published on the KS network website.

The mean age of the KS cases was 8.3 years with the age range from 1.2 to 29 years. 29 of 53 case were female. 98% were seen by a specialist in the area. 88% had chromosomal studies done. The most common facial/ cranial features identified include prominent ears (87%), long palpebral fissuresi (84%), highly arched palate (84%), thick eyelashes (76%), missing teeth (73%) and arched eyebrows (71%). Many showed fine motor delay (92%), gross motor delay (90%), hypotonia (87%), intellectual disability (85%), speech delay (82%), delayed toilet training (82%), tactile defensiveness (78%), excellent memory (75%), motor planning delay (73%) and sensory motor integration delay (71%). Sleeping with the eyes open (71%), decreased muscle tone (87%), small stature (75%), increased range of motion of joints (72%), poor sucking (78%) and abnormal finger pads (84%). 81% of cases were said to have a urogenital abnormality of any type and a small penis, was seen in 29% of males. 71% were said to have a hematological or immunological abnormality of which frequent infections (67%) were the most common. 64% reported cardiac anomalies: a murmur reported in 50%; and a VSD reported in 27%. KS cases were often said to have a happy disposition (89%), 75% were said to like routine. Poor eye contact (57%), excessive need for routines (55%), obsessions (55%), extreme sensitivity (47%), talks to self (53%) and repeating words or phrases (45%) were reported.

Although there are many limitations of this type of survey, these findings do represent an important contribution. For example, our own center used this database to determine the frequency of polydactyly/oligodactyly after our own encounter with KS patients with these features. No additional cases were identified confirming this to be a rare occurrence. It is clear KS is often associated with significant neurobehavioral and social problems in childhood including autistic-like behaviors.

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