Research Notes: Prader-Willi Syndrome and Speech Disorders

Behav Genet. 2006 Nov.
Speech sound disorder influenced by a locus in 15q14 region.
Stein CM, Millard C, Kluge A, Miscimarra LE, Cartier KC, Freebairn LA, Hansen AJ, Shriberg LD, Taylor HG, Lewis BA, Iyengar SK.
Department of Epidemiology and Biostatistics, Case Western Reserve University, Wolstein Research Building Room 1315, 2103 Cornell Rd, Cleveland, OH, USA.

Despite a growing body of evidence indicating that speech sound disorder (SSD) has an underlying genetic etiology, researchers have not yet identified specific genes predisposing to this condition. The speech and language deficits associated with SSD are shared with several other disorders, including dyslexia, autism, Prader-Willi Syndrome (PWS), and Angelman's Syndrome (AS), raising the possibility of gene sharing. Furthermore, we previously demonstrated that dyslexia and SSD share genetic susceptibility loci. The present study assesses the hypothesis that SSD also shares susceptibility loci with autism and PWS. To test this hypothesis, we examined linkage between SSD phenotypes and microsatellite markers on the chromosome 15q14-21 region, which has been associated with autism, PWS/AS, and dyslexia. Using SSD as the phenotype, we replicated linkage to the 15q14 region (P = 0.004). Further modeling revealed that this locus influenced oral-motor function, articulation and phonological memory, and that linkage at D15S118 was potentially influenced by a parent-of-origin effect (LOD score increase from 0.97 to 2.17, P = 0.0633). These results suggest shared genetic determinants in this chromosomal region for SSD, autism, and PWS/AS.

J Commun Disord. 2002 May-Jun.
Articulation in Prader-Willi syndrome.
Defloor T, Van Borsel J, Curfs L.
Department of Audiology, Speech and Language Pathology, Ghent University Hospital, Belgium.

This study investigated articulation in 13 individuals with Prader-Willi syndrome (PWS), chronological age from 7; 0 to 29; 5, total IQ from 38 to 83. To elicit a speech sample a picture-naming test was used. Pictures were chosen so that, when named correctly, they yield a sample containing instances of all Dutch single speech sounds and clusters in all permissible syllable positions. All samples were transcribed phonetically by a stringent transcription procedure, and reliability of the transcription was assessed both by an intra-observer and inter-observer reliability check. The transcribed speech samples were subjected to several analyses as to characterize articulation from different perspectives. It was found that articulation in persons with PWS is usually impaired. Results suggest that the overall error rate is a function of IQ, and that with increasing age, phonological problems gradually resolve while phonetic difficulties become more evident. Learning outcomes: The reader will learn about (1) clinical characteristics, etiology, incidence, and prevalence of Prader-Willi syndrome; (2) speech and language difficulties in Prader-Willi syndrome; (3) articulation characteristics in Prader-Willi syndrome.

J Voice. 2001 Jun.
Aerodynamic and acoustic characteristics of voice in Prader-Willi syndrome.
Defloor T, Van Borsel J, Curfs L, De Bodt M.
UZ Gent, Centrum voor Gehoor- & Spraakrevalidatie, Belgium. Truus.

Prader-Willi syndrome (PWS) is a multisystem disorder caused by DNA abnormalities involving chromosome 15. Major characteristics are infant hypotonia, hypogonadism, mental retardation, a short stature, atypical facial appearance, and the onset of obesity due to insatiable hunger in early childhood. Also, speech and language abnormalities have been reported including voice disorders. These have seldom been studied in detail, however. This paper reports the results of an acoustic and aerodynamic investigation of the voice in 22 individuals with PWS. Two age groups were distinguished, a group of children [chronological age (CA) 6 years, 7 months through 11 years, 7 months; total intelligence quotient (TIQ) 40-88] and a group of adolescents and adults (CA 17 years, 1 month through 29 years, 5 months; TIQ 41-94). Both aerodynamic and acoustic parameters were obtained and compared with normative data from the Belgian Study Group on Voice Disorders. It was found that voice difficulties do commonly occur in individuals with PWS including impairment of frequency levels, voice quality, and poor aerodynamic capabilities.

J Intellect Disabil Res. 1997 Aug.
Voice, speech and language characteristics of children with Prader-Willi syndrome.
Akefeldt A, Akefeldt B, Gillberg C.
Department of Child and Adolescent Psychiatry, Annedalskliniken, Goteborg, Sweden.

Eleven individuals with Prader-Willi syndrome (PWS), aged between 4 and 25 years, were compared with II non-PWS children of the same sex, age, body mass index and IQ level. Voice, speech and language skills were generally impaired in subjects with PWS. Oral motor function, pitch level and resonance were specifically disordered and clearly differentiated the two groups from each other. Certain biological perinatal factors separated subjects with PWS from other obese children and adolescents, but did not differentiate within the group with PWS and could not account for the speech/language problems. Underlying cerebral dysfunction, combined with a characteristic anatomy of the mouth and larynx in PWS, contributes to altered voice, speech and language function.

J Speech Hear Disord. 1990 May.
The speech and language characteristics of children with Prader-Willi syndrome.
Kleppe SA, Katayama KM, Shipley KG, Foushee DR.
Sanger Unified School District, CA.

Prader-Willi syndrome was initially identified in 1956. Since then, a majority of the literature pertaining to Prader-Willi has focused on the medical and genetic aspects of the syndrome. There has been limited information available regarding the speech and language abilities of children with Prader-Willi. This study investigated the communicative development of 18 children with the syndrome, ranging in age from 8:8 to 17:1. A number of evaluative procedures were used to evaluate the subjects' spontaneous speech, articulation, and receptive and expressive language abilities, as well as their voice, fluency, oral mechanisms, hearing, and their developmental histories. A variety of communicative deficiencies were found in the children's speech, language, voice, and fluency.

J Speech Hear Disord. 1989 Feb.
Phonologic abilities of a preschool child with Prader-Willi syndrome.
Dyson AT, Lombardino LJ.
University of Florida, Gainesville.

The case study follows the development of phonologic abilities in a child with Prader-Willi syndrome from age 2:7 to 6:1 during a period in which she was enrolled in language and phonologic remediation. Changes in her phonetic inventory, in the set of phonemes used correctly, and in phonologic processes are described. Although her phonologic system appeared to parallel those of normally developing children in many ways, some unusual sounds and patterns of usage were also seen. Because the effect of the treatment program on the development of her phonologic system cannot be adequately determined, clinicians should use caution when generalizing these results to other children with this syndrome.