A retrospective review of neurobehavioral and psychosocial issues in adults with putative Sotos syndrome

Families in the Sotos Syndrome Support Association with affected individuals aged 21 or older were invited to participate in a telephone interview. All families with current phone numbers assented. In two cases, the interview was with the affected individual; the balance with a parent. Medical status, educational history, employment experience, living arrangements, life skills, goals and aspirations, happiness and spiritual life were explored during the telephonic interview. Medical records and photographs were requested thereafter to provide a more complete assessment, and review the reliability of the Sotos diagnosis. Of 16 probands ages 20 - 35, 10 live with their parents; 4 in group homes; 1 at college and 1 in assisted apartment living. 2 are in college and 2 hold college diplomas. 13 of 16 work at least part-time, 5 in “open market” jobs and 8 in supported employment; two are considered unable to hold a job. Math skills are described as very poor, and money management is impossible for most. 5 of 16 have significant psychiatric disturbance including incapacitating anxiety, depression, aggressiveness, OCD, and schizo-affective disorder. A variety of somatic complaints have presented in adulthood, with obesity being a significant difficulty for many females. Most probands have fewer friends and outside activities than their parents would like. Few are dating or exhibiting any desire to do so. Many read for pleasure, correspond by computer, enjoy videos and music, and maintain collections of various sorts. Most are affiliated with a community of faith and are described as reasonably happy, the exceptions being those with psychiatric disturbance. The SSSA provides information and support to families of individuals with Sotos and related conditions. Adult probands may have received their diagnoses before systematic criteria were developed. Diagnostic difficulties and inherent bias of ascertainment complicate interpretation of the data gathered from support groups.