Speech and Language Skills of Individuals With Prader-Willi Syndrome

2002 ◽  
Vol 11 (3) ◽  
pp. 285-294 ◽  
Author(s):  
Barbara A. Lewis ◽  
Lisa Freebairn ◽  
Shauna Heeger ◽  
Suzanne B. Cassidy
Keyword(s):  
Standardized Testing ◽  
Voice Quality ◽  
Speech Sound ◽  
Uniparental Disomy ◽  
Speaking Rate ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Speech And Language ◽  
Language Abilities ◽  
Motor Difficulties

The speech and language of 55 individuals (27 males and 28 females) with Prader-Willi syndrome (PWS), aged from 6 months to 42 years, were examined through standardized testing and spontaneous speech sample analysis. While great variability was noted in speech and language abilities, most subjects presented with speech sound errors characterized by imprecise articulation (85%), and oral motor difficulties (91%). Hypernasality was noted in 62% and hyponasality in 14%. Other speech characteristics included a slow speaking rate, flat intonation patterns, abnormal pitch of the voice, and harsh/hoarse voice quality. Narrative retelling abilities were poor, with specific deficits in sequencing of story events. Individuals with PWS as a result of deletions of chromosome 15 did not differ significantly in speech and language from individuals with PWS as a result of uniparental disomy.

Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study

2019 ◽  
Vol 32 (8) ◽  
pp. 879-884 ◽  
Author(s):  
Raquel Corripio ◽  
Carla Tubau ◽  
Laura Calvo ◽  
Carme Brun ◽  
Núria Capdevila ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Prospective Study ◽  
Mixed Model ◽  
Standard Deviation Score ◽  
Uniparental Disomy ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Gh Treatment ◽  
Maternal Uniparental Disomy ◽  
A Prospective Study

Abstract Background There is little evidence of the effects of early treatment with growth hormone (GH) in infants with Prader-Willi syndrome (PWS). A prospective study was conducted to assess the safety of GH therapy in infants younger than 2 years of age with PWS. Methods A total of 14 patients with PWS started treatment with GH under the age of 2 years and were followed over a 2-year period. A deletion of chromosome 15 was present in nine infants (64.3%) and maternal uniparental disomy 15 in five infants (35.7%). The median age at start of GH treatment was 9.6 months (interquartile range [IQR] 9.0–18.3 months). Changes in height standard deviation score (SDS), body mass index (BMI) SDS and subcapsular and tricipital skinfolds in the follow-up period were evaluated with a mixed-model regression analysis using the Package R. Results There were no fatal adverse events. A significant decrease (p < 0.001) in tricipital and subcapsular skinfold thickness, with an upward trend of height SDS and a downward trend of BMI SDS, was observed. Infants who started GH before 15 months of age started walking at a median of 18.0 [17.0–19.5] months vs. 36.6 [36.3–37.8] months for those who began treatment with GH after 15 months of age (p = 0.024). Conclusions GH treatment in infants with PWS less than 2 years of age is safe and improved body composition. Infants who received GH before the age of 15 months started to walk earlier.

The Speech and Language Characteristics of Children with Prader-Willi Syndrome

1990 ◽  
Vol 55 (2) ◽  
pp. 300-309 ◽  
Author(s):  
Sallie A. Kleppe ◽  
Kerri Misaki Katayama ◽  
Kenneth G. Shipley ◽  
David R. Foushee
Keyword(s):  
Expressive Language ◽  
Spontaneous Speech ◽  
Prader Willi Syndrome ◽  
Limited Information ◽  
Speech And Language ◽  
Language Abilities ◽  
Speech Articulation ◽  
Communicative Development ◽  
Language Characteristics ◽  
Children's Speech

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.

scholarly journals Quantitative Analysis of SRNPN Gene Methylation by Pyrosequencing as a Diagnostic Test for Prader–Willi Syndrome and Angelman Syndrome

2006 ◽  
Vol 52 (6) ◽  
pp. 1005-1013 ◽  
Author(s):  
Helen E White ◽  
Victoria J Durston ◽  
John F Harvey ◽  
Nicholas CP Cross
Keyword(s):  
Diagnostic Test ◽  
Angelman Syndrome ◽  
Uniparental Disomy ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Maternal Uniparental Disomy ◽  
Cpg Sites ◽  
Specific Pcr ◽  
Small Nuclear Ribonucleoprotein ◽  
Maternal Contribution

Abstract Background: Angelman syndrome (AS) and Prader–Willi syndrome (PWS) are 2 distinct neurodevelopmental disorders caused primarily by deficiency of specific parental contributions at an imprinted domain within the chromosomal region 15q11.2-13. In most cases, lack of paternal contribution leads to PWS either by paternal deletion (∼70%) or maternal uniparental disomy (UPD; ∼30%). Most cases of AS result from the lack of a maternal contribution from this same region by maternal deletion (∼70%) or by paternal UPD (∼5%). Analysis of allelic methylation differences at the small nuclear ribonucleoprotein polypeptide N (SNRPN) locus can differentiate the maternally and paternally inherited chromosome 15 and can be used as a diagnostic test for AS and PWS. Methods: Sodium bisulfite–treated genomic DNA was PCR-amplified for the SNRPN gene. We used pyrosequencing to individually quantify the resulting artificial C/T sequence variation at CpG sites. Anonymized DNA samples from PWS patients (n = 40), AS patients (n = 31), and controls (n = 81) were analyzed in a blinded fashion with 2 PCR and 3 pyrosequencing reactions. We compared results from the pyrosequencing assays with those obtained with a commonly used methylation-specific PCR (MS-PCR) diagnostic protocol. Results: The pyrosequencing assays had a sensitivity and specificity of 100% and provided quantification of methylation at 12 CpG sites within the SNRPN locus. The resulting diagnoses were 100% concordant with those obtained from the MS-PCR protocol. Conclusions: Pyrosequencing is a rapid and robust method for quantitative methylation analysis of the SNRPN locus and can be used as a diagnostic test for PWS and AS.

Non-chromosome 15 marker chromosome in a Prader-Willi syndrome patient with uniparental disomy

2006 ◽  
Vol 48 (1) ◽  
pp. 97-99
Author(s):  
MIZUHO ICHIKAWA ◽  
MAKI OKAJIMA ◽  
TAKAHITO WADA ◽  
YUMI GOKAN ◽  
HIROMI SHIMAKAGE ◽  
...  
Keyword(s):  
Marker Chromosome ◽  
Uniparental Disomy ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Syndrome Patient

Nonword Repetition Performance Differentiates Children Who Stutter With and Without Concomitant Speech Sound and Developmental Language Disorders

2022 ◽  
pp. 1-13
Author(s):  
Katelyn L. Gerwin ◽  
Bridget Walsh ◽  
Seth E. Tichenor
Keyword(s):  
Sound Production ◽  
Language Disorder ◽  
Speech Sound ◽  
Language Disorders ◽  
Nonword Repetition ◽  
Driving Factor ◽  
Speech And Language ◽  
Speech Sound Disorder ◽  
Language Abilities ◽  
Speech And Language Disorders

Purpose: The aim of this study was to examine how nonword repetition (NWR) performance may be impacted by the presence of concomitant speech and language disorders in young children who stutter (CWS). Method: One hundred forty-one children (88 CWS and 53 children who do not stutter [CWNS]) participated. CWS were divided into groups based on the presence of speech sound and/or language disorder or typical speech sound production and language abilities. NWR abilities were measured using stimuli composed of one- to four-syllable nonwords. Results: CWS with typical speech and language and CWNS had higher accuracy scores than CWS with concomitant speech and language disorders. We found no difference in accuracy scores between CWNS and CWS with typical speech and language abilities, nor did we find differences between CWS with speech sound disorder and CWS with both speech sound and language disorders. Accuracy decreased as nonword length increased for all groups. Conclusions: We found that the presence of a concomitant speech and language disorder was a driving factor behind poorer NWR performance in CWS. Accuracy scores differentiated CWS with concomitant disorders from CWS with typical speech and language but not CWS with typical speech and language from CWNS. Considering the speech and language abilities of CWS helped clarify poorer NWR performance and enhances generalizability to the population that exists clinically.

The phenomenology and diagnosis of psychiatric illness in people with Prader–Willi syndrome

2008 ◽  
Vol 38 (10) ◽  
pp. 1505-1514 ◽  
Author(s):  
S. Soni ◽  
J. Whittington ◽  
A. J. Holland ◽  
T. Webb ◽  
E. N. Maina ◽  
...  
Keyword(s):  
Family History ◽  
Affective Disorder ◽  
Psychiatric Illness ◽  
Uniparental Disomy ◽  
Psychotic Symptoms ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Psychotic Illness ◽  
Genetic Subtype ◽  
History Of

BackgroundPsychotic illness is strongly associated with the maternal uniparental disomy (mUPD) genetic subtype of Prader–Willi syndrome (PWS), but not the deletion subtype (delPWS). This study investigates the clinical features of psychiatric illness associated with PWS. We consider possible genetic and other mechanisms that may be responsible for the development of psychotic illness, predominantly in those with mUPD.MethodThe study sample comprised 119 individuals with genetically confirmed PWS, of whom 46 had a history of psychiatric illness. A detailed clinical and family psychiatric history was obtained from these 46 using the PAS-ADD, OPCRIT, Family History and Life Events Questionnaires.ResultsIndividuals with mUPD had a higher rate of psychiatric illness than those with delPWS (22/34 v. 24/85, p<0.001). The profile of psychiatric illness in both genetic subtypes resembled an atypical affective disorder with or without psychotic symptoms. Those with delPWS were more likely to have developed a non-psychotic depressive illness (p=0.005) and those with mUPD a bipolar disorder with psychotic symptoms (p=0.00005). Individuals with delPWS and psychotic illness had an increased family history of affective disorder. This was confined exclusively to their mothers.ConclusionsPsychiatric illness in PWS is predominately affective with atypical features. The prevalence and possibly the severity of illness are greater in those with mUPD. We present a ‘two-hit’ hypothesis, involving imprinted genes on chromosome 15, for the development of affective psychosis in people with PWS, regardless of genetic subtype.

Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation

2001 ◽  
Vol 100 (1) ◽  
pp. 85-86 ◽  
Author(s):  
Lori L. Bassett ◽  
Ron C. Michaelis ◽  
Mary Holland Geiger ◽  
Jack Tarleton ◽  
C. Lynn Moore ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Maternal Uniparental Disomy

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: Utility of genome-wide SNP array

2012 ◽  
Vol 161 (1) ◽  
pp. 166-171 ◽  
Author(s):  
Kosuke Izumi ◽  
Avni B. Santani ◽  
Matthew A. Deardorff ◽  
Holly A. Feret ◽  
Tanya Tischler ◽  
...  
Keyword(s):  
Snp Array ◽  
Uniparental Disomy ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Maternal Uniparental Disomy ◽  
Genome Wide

Molecular Analysis of an Extra inv dup(15)(q13) Chromosome in Two Patients with Angelman Syndrome

1996 ◽  
Vol 45 (1-2) ◽  
pp. 217-220 ◽  
Author(s):  
T. Buchholz ◽  
S. Schuffenhauer ◽  
K. Evans ◽  
L. Robson ◽  
B. Appleton ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Angelman Syndrome ◽  
Uniparental Disomy ◽  
Molecular Data ◽  
Monoallelic Expression ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Loss Of Function ◽  
Maternal Allele ◽  
Molecular Defects

Angelman syndrome (AS) is caused by the loss of function of yet unidentified gene(s) which map within 15q 11-13 and show monoallelic expression from the maternal allele. Lack of the maternal allele(s), due to either a deletion on the maternal chromosome 15 (about 70% of AS patients) or a paternal uniparental disomy (UPD)15 (<5%), are the most common molecular defects in AS. Prader-Willi syndrome (PWS) also maps to proximal 15q, but is caused by the loss of function of paternally expressed gen(s) [1]. Here we describe clinical, cytogenetic and molecular data for two non-related patients with AS who carry a nonmosaic extra cromosome inv dup(15).

scholarly journals Molecular Changes in Prader-Willi Syndrome Neurons Reveals Clues About Increased Autism Susceptibility.

2021 ◽  
Author(s):  
Anna Kaitlyn Victor ◽  
Martin Donaldson ◽  
Daniel Johnson ◽  
Winston Miller ◽  
Lawrence Reiter
Keyword(s):  
Behavioral Problems ◽  
Neurodevelopmental Disorder ◽  
Uniparental Disomy ◽  
Autism Spectrum ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Maternal Uniparental Disomy ◽  
Mitochondrial Defects ◽  
Mitochondrial Transcripts ◽  
Global Reduction

Background: Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by hormonal dysregulation, obesity, intellectual disability, and behavioral problems. Most PWS cases are caused by paternal interstitial deletions of 15q11.2-q13.1, while a smaller number of cases are caused by chromosome 15 maternal uniparental disomy (PW-UPD). Children with PW-UPD are at higher risk for developing autism spectrum disorder (ASD) than the neurotypical population. In this study, we used expression analysis of PW-UPD neurons to try to identify the molecular cause for increased autism risk. Methods: Dental pulp stem cells (DPSC) from neurotypical control and PWS subjects were differentiated to neurons for mRNA sequencing. Significantly differentially expressed transcripts among all groups were identified. Downstream protein analysis including immunocytochemistry and immunoblots were performed to confirm the transcript level data and pathway enrichment findings. Results: We identified 9 transcripts outside of the PWS critical region (15q11.2-q13.1) that may contribute to core PWS phenotypes. Moreover, we discovered a global reduction in mitochondrial transcripts in the PW-UPD +ASD group. We also found decreased mitochondrial abundance along with mitochondrial aggregates in the cell body and neural projections of +ASD neurons. Conclusions: The 9 transcripts we identified common to all PWS subtypes may reveal PWS specific defects during neurodevelopment. Importantly, we found a global reduction in mitochondrial transcripts in PW-UPD +ASD neurons versus control and other PWS subtypes. We then confirmed mitochondrial defects in neurons from individuals with PWS at the cellular level. Quantification of this phenotype supports our hypothesis that the increased incidence of ASD in PW-UPD subjects may arise from mitochondrial defects in developing neurons.

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