Results 121 to 130 of about 8,804 (263)

Defining Transition and Transition Success: Perspectives From Different Stakeholders. [PDF]

J Appl Res Intellect Disabil
Šiška J, Beadle-Brown J, Káňová Š, Havránková T, Černíková M.   +4 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Exploring Staff Perceptions and Experiences in Services Providing Different Levels of Active Support. [PDF]

J Intellect Disabil Res
Bradshaw J, Whelton B, Beadle-Brown J, Richardson L, Leigh J.   +4 more
europepmc   +1 more source

Introducing AI & Innovation

AI &Innovation, EarlyView.
Mirko Farina, Xiao Yu, Rongrong Ji, Chen Jin, Vincent Blok, Paolo Ciancarini, Ngcaweni Busani, Witold Pedrycz   +7 more
wiley   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Predictors of Job Satisfaction of Frontline Staff Working in Supported Accommodation Services for People With Intellectual Disabilities. [PDF]

J Appl Res Intellect Disabil
Humphreys L, Bigby C.
europepmc   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Front Line Leadership in Organisations for Persons With Intellectual and Developmental Disabilities: A Systematic Review. [PDF]

J Appl Res Intellect Disabil
Fajardo-Castro LV, Jalili S, Martínez-Tur V.   +2 more
europepmc   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Digital Pathways to Family Bonds: Exploring WhatsApp Video Calls Adoption by Older Adults With Intellectual Disability in Out-of-Home Residence. [PDF]

J Appl Res Intellect Disabil
Shpigelman CN, Isaacson M, Cohen-Nudelman A.   +2 more
europepmc   +1 more source