Purpose: Smith-Magenis syndrome (SMS), a rare, genetically linked complex developmental disorder caused by a deletion or mutation within chromosome 17p11.2, is associated with delays in speech-language development, otopathology, and hearing loss, yet previous studies lack comprehensive descriptions of hearing and communication profiles. Here,…

Despite current guidelines, few children with autism spectrum disorder (ASD) receive genetic evaluations. We surveyed Utah pediatricians to characterize the knowledge, beliefs, current practices and perceived barriers of pediatricians regarding genetic evaluation of children with ASD. We found over half lacked knowledge of current guidelines and…

This article describes the findings of a qualitative study on knowledge, beliefs, attitudes, and practices towards children with spina bifida and hydrocephalus in four regions of Uganda. Focus group discussions and semi-structured interviews were held with parents of children with spina bifida and hydrocephalus, policy-makers, and service…

This final report reviews the second phase of a life-span study of boys with fragile X syndrome (FSX), the most common known inherited cause of mental retardation. Males with the syndrome are more severely affected than females and in males, delays are usually evident in all the developmental domains, although cognitive and communication skills…

This issue contains eight articles that represent information on a variety of highly specialized topics involving communicative sciences. Articles include: (1) "The Reliability of the Kay Elemetrics Multidimensional Voice Program (MDVP) for Acoustic Analysis of the Normal Voice" (Ann Marie Cimino and Christine M. Sapienza), which focuses on the…