1167 – Prader-willi syndrome psychobehavioral profile in a clinic based sample

Abstract

BackgroundMaladaptive behaviors and cognitive impairment can be main problems in patients with Prader-Willi Syndrome. Understanding difficulties underlying the maladaptive behavior through early diagnosis and management allow tremendous improvement in the whole clinical picture.AimTo study the psychobehavioral deviations in a sample of Egyptian children with Prader-Willi syndrome and possible relation to genotype.MethodsWe included 15 out of 72 patients of both sexes, aged from 5–15 years old from the National Research Centre. All patient were fulfilling the diagnostic threshold of modified list of Prader-Willi criteria. Detailed cytogenetic analysis was done using: conventional cytogenetic analysis of peripheral blood lymphocytes and Fluorescent in Situ Hybridization. Cognitive and psychological profile of Patients were assessed usingstandard and semi structured psychiatric sheet and interviewWechsler Intelligence Scale for Children,Child Behavior Checklist for ages 4–18years,Conner’s’ Parent Rating Scale-Revised; long version,Childhood Autism Rating Scale.Results66.7 % of the patients were deletion positive and 33.3% were negative. 100% of the sample were mentally subnormal. 26.3% had autistic symptoms ranging from features to severe form, all were deletion negative. High prevalence of inattention, hyperactivity, anxiety, social, cognitive and behavioral problems were evident in the patients, manifested in more frequency and severity in non-deletion patients.ConclusionCognitive and psychological challenges were evident in PWS patients’. There were some clinical differences according to different genotypes.

Autism spectrum disorder in Prader–Willi syndrome: A systematic review

“…Before the last review was written [Dykens et al, ], all publications investigating ASD symptoms in PWS had taken place in the United States or select Western European countries (United Kingdom, Netherlands, Belgium, and Italy). Since that review, publications have emerged from other countries, including Egypt [Ali et al, ] and Japan [Ogata et al, ; Song et al, ], confirming the presence of ASD symptomatology in more diverse samples of those with PWS.…”

“…Studies that reported ASD symptoms in individuals with PWS are summarized in Table . Notably, each of these except one [Ali et al, ] had a mean sample age of >10 years. Fewer than half of the studies included non‐PWS ASD comparison groups.…”

“…Studies investigating overall ASD symptomatology in individuals with PWS used various comparison/control groups. A recent descriptive study with no control group [Ali et al, ] found that 4 of 15 (26.7%) individuals with PWS had mild to significant ASD features, based on cut‐offs from the childhood autism rating scale [Schopler et al, ]. Notably, all four individuals were the UPD genetic subtype.…”

Early Screening and Risk Factors of Autism Spectrum Disorder in a Large Cohort of Chinese Patients With Prader-Willi Syndrome

“…Additionally, there has been a growing recognition of the potential relationship between Prader-Willi Syndrome and Autism Spectrum Disorder (10). Through clinical observation, it is noticed that some of the behavioral features of Prader-Willi Syndrome overlap with those found in individuals with Autism Spectrum Disorder (8). Thus, we believe that our results from these screening methods are generalizable to the early screening of those with ALP in PWS patients while also providing a better reflection of crosssectional functional levels and other associated deficits which may pose significant impact to their education, career, and quality of life.…”

“…Prader-Willi Syndrome (PWS) is a type of syndromic ASD and rare genetic disorder that can be caused by one of the three genetic abnormalities: a paternal deletion of the 15q11.2-q13 region, maternal uniparental disomy (mUPD), or an imprinting defect (ID) (6,7). Studies suggest that the prevalence of ASD in PWS ranges from 12.7 to 40% with significant overlaps in their clinical features (8)(9)(10)(11)(12)(13)(14). The early identification and screening of individuals with PWS that are at risk for ASD will help facilitate early intervention, which can significantly impact their prognosis, thus highlighting the need for further studies.…”