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Page 1
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental delay (GDD) (n = 21), moderate to profound intellectual disability (n = 17) and epilepsy (n = 21). Seizures mainly started in the first two years of life (median 22.5 mo …
Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental delay (GDD) (n = 21), moderate to profound …
Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability.
Borlot F, de Almeida BI, Combe SL, Andrade DM, Filloux FM, Myers KA. Borlot F, et al. Epilepsia. 2019 Aug;60(8):1661-1669. doi: 10.1111/epi.16273. Epub 2019 Jul 5. Epilepsia. 2019. PMID: 31273778
OBJECTIVE: To determine the diagnostic yield of a commercial epilepsy gene panel in adults with chronic epilepsy and accompanying intellectual disability, given that genetic evaluation is often overlooked in this group of patients. ...Six variants arose de novo, and …
OBJECTIVE: To determine the diagnostic yield of a commercial epilepsy gene panel in adults with chronic epilepsy and accompanying intelle …
Diagnostic stability in individuals with autism spectrum disorder: insights from a longitudinal follow-up study.
Elias R, Lord C. Elias R, et al. J Child Psychol Psychiatry. 2022 Sep;63(9):973-983. doi: 10.1111/jcpp.13551. Epub 2021 Dec 10. J Child Psychol Psychiatry. 2022. PMID: 34890046 Free PMC article.
Although most participants with VIQ < 70 saw decreases in autistic symptoms as a whole, changes in autism diagnoses were confounded by disentangling profound intellectual disability as a differential diagnosis or co-occurrence. ...

Although most participants with VIQ < 70 saw decreases in autistic symptoms as a whole, changes in autism diagnoses were confounded by di

…
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.
Cook CB, Armstrong L, Boerkoel CF, Clarke LA, du Souich C, Demos MK, Gibson WT, Gill H, Lopez E, Patel MS, Selby K, Abu-Sharar Z; CAUSES Study; Elliott AM, Friedman JM. Cook CB, et al. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006125. doi: 10.1101/mcs.a006125. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34697084 Free PMC article.
Spasticity treatment facilitates direct care delivery for adults with profound intellectual disability.
Charles PD, Gill CE, Taylor HM, Putman MS, Blair CR, Roberts AG, Ayers GD, Konrad PE. Charles PD, et al. Mov Disord. 2010 Mar 15;25(4):466-73. doi: 10.1002/mds.22995. Mov Disord. 2010. PMID: 20131401
Many adults with intellectual disabilities (ID) have spasticity, where increased muscle tone impairs activities of daily living (ADL) self-performance and care delivery. ...Our objective is to determine the effect of comprehensive spasticity management on ADL self-p …
Many adults with intellectual disabilities (ID) have spasticity, where increased muscle tone impairs activities of daily living (ADL) …
Genotype-phenotype correlation at codon 1740 of SETD2.
Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Bélanger SA, Löhner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J. Rabin R, et al. Am J Med Genet A. 2020 Sep;182(9):2037-2048. doi: 10.1002/ajmg.a.61724. Epub 2020 Jul 24. Am J Med Genet A. 2020. PMID: 32710489
(Arg1740Gln). The phenotype of Group 1 includes microcephaly, profound intellectual disability, congenital anomalies affecting several organ systems, and similar facial features. Individuals in Group 2 had moderate to severe intellectual disability …
(Arg1740Gln). The phenotype of Group 1 includes microcephaly, profound intellectual disability, congenital anomalies af …
Anxiety in autistic individuals who speak few or no words: A qualitative study of parental experience and anxiety management.
Tarver J, Pearson E, Edwards G, Shirazi A, Potter L, Malhi P, Waite J. Tarver J, et al. Autism. 2021 Feb;25(2):429-439. doi: 10.1177/1362361320962366. Epub 2020 Oct 1. Autism. 2021. PMID: 32998530 Free PMC article.
Anxiety is a common condition in autistic individuals, including those who also have an intellectual disability. Despite this, autistic individuals who have severe to profound intellectual disability, or use few or no words, are often excluded f …
Anxiety is a common condition in autistic individuals, including those who also have an intellectual disability. Despite this, …
The role of intelligence in phenylketonuria: a review of research and management.
Brumm VL, Grant ML. Brumm VL, et al. Mol Genet Metab. 2010;99 Suppl 1:S18-21. doi: 10.1016/j.ymgme.2009.10.015. Mol Genet Metab. 2010. PMID: 20123465 Review.
Phenylketonuria (PKU) results in profound intellectual disability in untreated individuals and more subtle cognitive deficits in individuals treated early and continuously. ...Since the implementation of neonatal PKU screening programs in the 1960s, research …
Phenylketonuria (PKU) results in profound intellectual disability in untreated individuals and more subtle cognitive de …
Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC. Huisman S, et al. Am J Med Genet A. 2017 Aug;173(8):2108-2125. doi: 10.1002/ajmg.a.38279. Epub 2017 May 26. Am J Med Genet A. 2017. PMID: 28548707
In the Dutch group 5 of 13 individuals (all females) had a phenotype that shows a remarkable resemblance to Rett syndrome: epileptic encephalopathy, severe or profound intellectual disability, stereotypic movements, and (in some) regression. ...
In the Dutch group 5 of 13 individuals (all females) had a phenotype that shows a remarkable resemblance to Rett syndrome: epileptic encepha …