Suchergebnisse - "INTELLECTUAL disabilities"

Factors affecting the feelings of safety among individuals with mild intellectual disabilities and severe challenging behaviour in residential care: A qualitative study of professional and service users' perspectives von Lokman, Suzanne, Bal, Roland, Didden, Robert, Embregts, Petri Jcm

“… This qualitative study focuses on what feeling safe means for people with mild intellectual disabilities and severe challenging behaviour, and which factors …”
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Non‐syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies von Tejada, María Isabel, Ibarluzea, Nekane

“… Since the discovery of the FMR1 gene and the clinical and molecular characterization of Fragile X Syndrome in 1991, more than 141 genes have been identified in …”
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A comprehensive systematic literature review of the burden of illness of Lennox–Gastaut syndrome on patients, caregivers, and society von Cross, J. Helen, Benítez, Arturo, Roth, Jeannine, Andrews, J. Scott, Shah, Drishti, Butcher, Emma, Jones, Aimee, Sullivan, Joseph

“… Fully elucidating the burden that Lennox–Gastaut syndrome (LGS) places on individuals with the disease and their caregivers is critical to improving outcomes …”
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Comprehensive evaluation of the child with intellectual disability or global developmental delays von Moeschler, John B, Shevell, Michael

“… Global developmental delay and intellectual disability are relatively common pediatric conditions. This report describes the recommended clinical genetics …”
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Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features von Johansen, Anide, Rosti, Rasim O, Musaev, Damir, Sticca, Evan, Harripaul, Ricardo, Zaki, Maha, Çağlayan, Ahmet Okay, Azam, Matloob, Sultan, Tipu, Froukh, Tawfiq, Reis, André, Popp, Bernt, Ahmed, Iltaf, John, Peter, Ayub, Muhammad, Ben-Omran, Tawfeg, Vincent, John B, Gleeson, Joseph G, Abou Jamra, Rami

“… The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000 …”
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Whole genome sequencing of 45 Japanese patients with intellectual disability von Abe‐Hatano, Chihiro, Iida, Aritoshi, Kosugi, Shunichi, Momozawa, Yukihide, Terao, Chikashi, Ishikawa, Keiko, Okubo, Mariko, Hachiya, Yasuo, Nishida, Hiroya, Nakamura, Kazuyuki, Miyata, Rie, Murakami, Chie, Takahashi, Kan, Hoshino, Kyoko, Sakamoto, Haruko, Ohta, Sayaka, Kubota, Masaya, Takeshita, Eri, Ishiyama, Akihiko, Nakagawa, Eiji, Sasaki, Masayuki, Kato, Mitsuhiro, Matsumoto, Naomichi, Kamatani, Yoichiro, Kubo, Michiaki, Takahashi, Yoshiyuki, Natsume, Jun, Inoue, Ken, Goto, Yu‐Ichi

“… Intellectual disability (ID) is characterized by significant limitations in both intellectual functioning and adaptive behaviors, originating before the age of …”
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Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) von Manickam, Kandamurugu, McClain, Monica R., Demmer, Laurie A., Biswas, Sawona, Kearney, Hutton M., Malinowski, Jennifer, Massingham, Lauren J., Miller, Danny, Yu, Timothy W., Hisama, Fuki M.

“… Purpose To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one …”
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Unveiling New Clinical and Genetic Insights in Ultra‐Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort von Turkyilmaz, Ayberk, Sager, Safiye Gunes, Terali, Kerem, Kart, Pinar Ozkan, Kamasak, Tulay, Ayaz, Akif, Cebi, Alper Han, Cansu, Ali

“… ABSTRACT Intellectual disability (ID) is defined as a severe impairment in reasoning, learning, and problem‐solving abilities along with adaptive behavior that …”
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Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome von Gerber, Sylvie, Alzayady, Kamil J, Burglen, Lydie, Brémond-Gignac, Dominique, Marchesin, Valentina, Roche, Olivier, Rio, Marlène, Funalot, Benoit, Calmon, Raphaël, Durr, Alexandra, Gil-da-Silva-Lopes, Vera Lucia, Ribeiro Bittar, Maria Fernanda, Orssaud, Christophe, Héron, Bénédicte, Ayoub, Edward, Berquin, Patrick, Bahi-Buisson, Nadia, Bole, Christine, Masson, Cécile, Munnich, Arnold, Simons, Matias, Delous, Marion, Dollfus, Helene, Boddaert, Nathalie, Lyonnet, Stanislas, Kaplan, Josseline, Calvas, Patrick, Yule, David I, Rozet, Jean-Michel, Fares Taie, Lucas

“… Gillespie syndrome (GS) is a rare variant form of aniridia characterized by non-progressive cerebellar ataxia, intellectual disability, and iris hypoplasia …”
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Personal, Social and Vocational Outcomes of Inclusive University for People With Intellectual Disability von O'Donovan, Mary‐Ann, Wedgwood, Nikki, Westermann, Greta, Rillotta, Fiona, Aitken, Tess

“… ABSTRACT Background Though people with intellectual disability have historically been excluded from university education, over the past three decades …”
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Persons With Intellectual and Developmental Disabilities in the Mental Health System: Part 1. Clinical Considerations von Pinals, Debra A, Hovermale, Lisa, Mauch, Danna, Anacker, Lisa

“… Individuals with intellectual and developmental disabilities (IDD) are at high risk of co-occurring mental health conditions, including major depressive …”
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Effect of inbreeding on intellectual disability revisited by trio sequencing von Kahrizi, Kimia, Hu, Hao, Hosseini, Masoumeh, Kalscheuer, Vera M., Fattahi, Zohreh, Beheshtian, Maryam, Suckow, Vanessa, Mohseni, Marzieh, Lipkowitz, Bettina, Mehvari, Sepideh, Mehrjoo, Zohreh, Akhtarkhavari, Tara, Ghaderi, Zhila, Rahimi, Maryam, Arzhangi, Sanaz, Jamali, Payman, Falahat Chian, Milad, Nikuei, Pooneh, Sabbagh Kermani, Farahnaz, Sadeghinia, Farnaz, Jazayeri, Roshanak, Tonekaboni, S. Hassan, Khoshaeen, Atefeh, Habibi, Haleh, Pourfatemi, Fatemeh, Mojahedi, Faezeh, Khodaie‐Ardakani, Mohammad‐Reza, Najafipour, Reza, Wienker, Thomas F., Najmabadi, Hossein, Ropers, Hans‐Hilger

“… In outbred Western populations, most individuals with intellectual disability (ID) are sporadic cases, dominant de novo mutations (DNM) are frequent, and …”
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COVID-19 and people with intellectual disability: impacts of a pandemic von Courtenay, K., Perera, B.

“… The impacts of the COVID-19 pandemic affect all groups in society. People with intellectual disability (ID) are especially vulnerable to the physical, mental …”
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Preservice Special Education Teachers' Use of Behavior‐Specific Praise: Effects on Middle School Students With Moderate Intellectual Disabilities von Çakıroğlu, Orhan

“… ABSTRACT Behavior‐specific praise (BSP) is an evidence‐based strategy that reinforces appropriate student behavior and improves classroom engagement, yet its …”
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Proband‐Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights von Ghalamkari, Safoura, Mianesaz, Hamidreza, Chitsaz, Ahmad, Ghazavi, Mohammadreza, Salehi, Mansoor

“… ABSTRACT Intellectual disability (ID) is a leading cause for referral to genetic services, with the most severe cases typically attributed to single genetic …”
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Cyclic Vomiting Syndrome in Patients Affected by Jansen–de Vries Syndrome: Results From an International Survey von Pizzol, A., Adams, K. A., Vries, B. B. A., Curry, C. J., Calvo, P. L.

“… ABSTRACT Jansen–de Vries syndrome (JdVS) is an autosomal dominant neurodevelopmental disorder with intellectual disability and gastrointestinal (GI) …”
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Selection bias on intellectual ability in autism research: a cross-sectional review and meta-analysis von Russell, Ginny, Mandy, William, Elliott, Daisy, White, Rhianna, Pittwood, Tom, Ford, Tamsin

“… Background Current global estimates suggest the proportion of the population with autism spectrum disorder (ASD) who have intellectual disability (ID) is …”
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Functional Reading Activities to Motivate and Empower for Young Adults With Intellectual or Developmental Disabilities: A Randomized Pilot Trial von Prahl, Alison, Fraze, Kaitlynn, Kannan, Anupama, Grauzer, Jeffrey, Sturdivant, Rodney X

“… Reading proficiency is an important life skill that contributes to improved quality of life and becoming an active member in society. This pilot randomized …”
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PTSD Symptoms After Traumatic Versus Stressful Life Events in People With Mild Intellectual Disabilities: Proving the Null von Rouleaux, Mariëlle, Peters‐Scheffer, Nienke, Bouwmeester, Samantha, Lindauer, Ramón, Mevissen, Liesbeth, Didden, Robert

“… ABSTRACT Background Research in people without ID suggests that both traumatic events (i.e., A criterion events) and stressful life events (i.e., non‐A …”
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ZDHHC9 X‐linked intellectual disability: Clinical and molecular characterization von Ramos, Anna Karolina Silva, Caldas‐Rosa, Erica Carine Campos, Ferreira, Bárbara Merfort, Versiani, Beatriz Ribeiro, Moretti, Patrícia Natalia, Oliveira, Silviene Fabiana, Pic‐Taylor, Aline, Mazzeu, Juliana F.

“… The ZDHHC9 gene encodes the Zinc Finger DHHC‐Type Containing 9 protein that functions as a palmitoyltransferase. Variants in this gene have been reported as …”
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