Speech and language skills and cognitive functioning in children with Apert syndrome: a pilot study.

There are few studies that report findings on the speech and language characteristics of Apert syndrome and little is known about the cognitive profile of the syndrome. The current study addresses this gap and explores speech, language, resonance/voice, attention oro-motor and cognitive skills in a group of 10 children (4;1-5;11) with Apert syndrome. The speech and language battery included: the CELF-Pre-school, the PLS-3, the Vocal Profile Analysis, GOS.SP.ASS, PACS; and the Brodsky Drooling Scale. Subscales of the BAS II-Early Years Version were used to assess cognition. Data were also collected on other factors that could influence developmental outcome such as audiological history and management; occlusion/dentition; respiratory problems and management; neuroanatomical abnormalities; the number and nature of cranial surgeries; and the occurrence of raised intracranial pressure. All children for whom a Performance IQ was obtained (n = 8) had abilities within the average range and IQ scores were considerably higher than those reported in previous studies. Eight children had moderate or severe language difficulties and expressive language difficulties were the most frequent. These language difficulties were not associated with a general cognitive deficit. All the children had problems with attention, speech and oro-motor skills. Nine had abnormal voice. In addition, a range of other associated factors that could affect functioning were identified. The discrepancies between the current study and previous investigations are outlined. Parameters for assessment are considered. The implications of these findings for valid assessments of children with Apert syndrome are discussed. Multidisciplinary assessment of children with Apert syndrome across a broad range of dimensions is recommended to obtain a profile of each child's strengths and weaknesses to ensure that appropriate educational placements and early interventions are implemented. Considering patterns of development over time at key ages is also argued to be of central importance.