Intellectual characteristics of Prader–Willi syndrome: comparison of genetic subtypes

Roof, Elizabeth; Stone, Wendy L.; MacLean, William E.; Feurer, Irene D.; Thompson, Travis; Butler, Merlin G.

doi:10.1046/j.1365-2788.2000.00250.x

Cited by 170 publications

(155 citation statements)

References 38 publications

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“…125 In most studies, those with UPD have a somewhat higher verbal IQ and milder behavior problems. 19,126,127 However, psychosis 128 and autism spectrum disorders 129,130 occur with significantly greater frequency among those with UPD. Individuals with the slightly larger, type 1 deletions (BP1-BP3) have been reported…”

Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

Prader-Willi syndrome

Cassidy

Schwartz

Miller

et al. 2012

Genetics in Medicine

1,134

1,193

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Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

Prader-Willi syndrome

Cassidy

Schwartz

Miller

et al. 2012

Genetics in Medicine

1,134

1,193

View full text Add to dashboard Cite

“…Russell and Oliver (2003) Roof et al, 2000), very few studies have used such reports due to issues with reliability and validity (Dykens et al, 2007).…”

Section: Assessment Of Internal States Within Individuals With Intellmentioning

confidence: 99%

The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities

Adams¹,

Oliver²

2011

Clinical Psychology Review

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The expression of emotions and internal states by individuals with severe or profound intellectual disabilities is a comparatively under-researched area. Comprehensive or standardised methods of assessing or understanding the emotions and internal states within this population, whose ability to communicate is significantly compromised, do not exist.The literature base will be discussed and compared to that within the general population.Methods of assessing broader internal states, notably depression, anxiety, and pain within severe or profound intellectual disabilities are also addressed. Finally, this review will examine methods of assessing internal states within genetic syndromes, including hunger, social anxiety and happiness within Prader-Willi, Fragile-X and Angelman syndrome. This will then allow for the identification of robust methodologies used in assessing the expression of these internal states, some of which may be useful when considering how to assess emotions within individuals with intellectual disabilities.

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“…1,7,8 Significantly higher verbal IQ scores in 4 subcategories of verbal testing (information, arithmetic, vocabulary, and comprehension) have been reported in individuals with PWS with UPD compared to individuals with a deletion. 9 In addition, individuals with PWS with UPD have been reported to have fewer maladaptive behaviors and reduced self-injury compared with individuals with deletions. [10][11][12] Conversely, visual processing of complex stimuli was significantly poorer in individuals with UPD compared with those with the deletion.…”

Section: Introductionmentioning

confidence: 99%

Expression of 4 Genes Between Chromosome 15 Breakpoints 1 and 2 and Behavioral Outcomes in Prader-Willi Syndrome

Bittel

Kibiryeva²,

Butler³

2006

Pediatrics

107

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Prader-Willi syndrome is a neurodevelopmental disorder that is characterized by infantile hypotonia, feeding difficulties, hypogonadism, mental deficiency, hyperphagia (leading to obesity in early childhood), learning problems, and behavioral difficulties. A paternal 15q11-q13 deletion is found in ~70% of patients with Prader-Willi syndrome, ~25% have uniparental maternal disomy 15, and the remaining 2% to 5% have imprinting defects. The proximal deletion breakpoint in the 15q11-q13 region occurs at 1 of 2 sites located within either of 2 large duplicons allowing for the identification of 2 deletion subgroups. The larger, type I (TI) deletion involves breakpoint 1, which is close to the centromere, whereas the smaller, type II (TII) deletion involves breakpoint 2, located ~500 kilobases distal to breakpoint 1. Breakpoint 3 is located at the distal end of the 15q11-q13 region and common to both typical deletion subgroups. Analyses of the genetic subtypes of Prader-Willi syndrome to date have primarily compared individuals with typical deletion and uniparental maternal disomy 15 without grouping the individuals with a deletion into TI or TII. Distinct differences have been reported between individuals with Prader-Willi syndrome resulting from deletion compared with uniparental maternal disomy 15 in physical, cognitive, and behavioral parameters. We previously presented the first assessment of clinical differences in individuals with Prader-Willi syndrome categorized as having type I or II deletions. Adaptive behavior, obsessive-compulsive behaviors, reading, math, and visual-motor integration assessments were generally poorer in individuals with Prader-Willi syndrome and the TI deletion compared with subjects with Prader-Willi syndrome with the TII deletion or uniparental maternal disomy 15. Four genes (NIPA1, NIPA2, CYFIP1, and GCP5) have been identified in the chromosomal region between breakpoints 1 and 2 and are implicated in compulsive behavior and lower intellectual ability observed in individuals with Prader-Willi syndrome with TI versus TII deletions. We quantified messenger-RNA levels of these 4 genes in actively growing lymphoblastoid cells derived from 8 subjects with Prader-Willi syndrome with the TI deletion (4 males, 4 females; mean: age 25.2 ± 8.9 years) and 9 with the TII deletion (3 males, 6 females; mean age: 19.5 ± 5.8 years). Messenger-RNA levels were correlated with validated psychological and behavioral scales administered by trained psychologists blinded to genotype status. Messenger RNA from NIPA1, NIPA2, CYFIP1, and GCP5 was reduced but detectable in the subjects with Prader-Willi syndrome with the TI deletion, supporting biallelic expression. For the most part, Address correspondence to Merlin G. Butler, MD, PhD, Children's Mercy Hospitals and Clinics, Section of Medical Genetics and Molecular Medicine, 2401 Gillham Rd, Kansas City, MO 64108. mgbutler@cmh.edu. The authors have indicated they have no financial relationships relevant to this article to disclose. Prader-willi syndrom...

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Intellectual characteristics of Prader–Willi syndrome: comparison of genetic subtypes

Cited by 170 publications

References 38 publications

Prader-Willi syndrome

Prader-Willi syndrome

The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities

Expression of 4 Genes Between Chromosome 15 Breakpoints 1 and 2 and Behavioral Outcomes in Prader-Willi Syndrome

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