Results 11 to 20 of about 92,072 (315)

FOXP1-related intellectual disability syndrome: a recognisable entity [PDF]

Journal of Medical Genetics, 2017
Background Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no specific phenotype emerged so far. Methods
Meerschaut, Ilse, Rochefort, Daniel, Revençu, Nicole, Pètre, Justine, Corsello, Christina, Rouleau, Guy A, Hamdan, Fadi F, Michaud, Jacques L, Morton, Jenny, Radley, Jessica, Ragge, Nicola, García-Miñaúr, Sixto, Lapunzina, Pablo, Bralo, Maria Palomares, Mori, Maria Ángeles, Moortgat, Stéphanie, Benoit, Valérie, Mary, Sandrine, Bockaert, Nele, Oostra, Ann, Vanakker, Olivier, Velinov, Milen, de Ravel, Thomy Jl, Mekahli, Djalila, Sebat, Jonathan, Vaux, Keith K, DiDonato, Nataliya, Hanson-Kahn, Andrea K, Hudgins, Louanne, Dallapiccola, Bruno, Novelli, Antonio, Tarani, Luigi, Andrieux, Joris, Parker, Michael J, Neas, Katherine, Ceulemans, Berten, Schoonjans, An-Sofie, Prchalova, Darina, Havlovicova, Marketa, Hancarova, Miroslava, Budisteanu, Magdalena, Dheedene, Annelies, Menten, Björn, Dion, Patrick A, Lederer, Damien, Callewaert, Bert   +45 more
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Metabolic syndrome and intellectual disability [PDF]

British Journal of Psychiatry, 2007
Mackin et al ([2007][1]) highlight the importance of screening and management of metabolic syndrome in patients with severe mental illness. This is particularly important in patients with intellectual disability as they have high rates of both physical and psychiatric comorbidities compared with ...
openaire   +2 more sources

Motor Skills in Male Children with Intellectual Disability, Down Syndrome, and Autism Spectrum Disorder: A Comparative Analysis [PDF]

مجله علوم پزشکی صدرا
Introduction: Motor skill deficits in children with intellectual disabilities can disrupt sensory information processing and motor experiences, leading to limitations in various functional domains.
Mahdi Kakavan, Hassan Daneshmandi, Elham Haji Hosseini   +2 more
doaj   +1 more source

Psychiatric aspects of 47, XYY (Jacobs) syndrome: A case report

Medicine Science, 2018
In this case, psychiatric aspects of 47, XYY syndrome is discussed in a male adolescent patient diagnosed with Attention Deficit Hyperactivity Disorder (ADHD), conduct disorder (CD), mild intellectual disability, and Tourette syndrome.
Hakan Ogutlu, Ibrahim Tiryaki, Ibrahim Selcuk Esin, Onur Burak Dursun   +3 more
doaj   +1 more source

Estimating the severity of intellectual disability in adults: A Mokken scaling analysis of the Learning Disability Screening Questionnaire. [PDF]

, 2013
A Mokken scaling analysis of the learning disability screening questionnaire (LDSQ) suggested that, with the exception of 1 item, the scale conforms to the properties of a Mokken scale.
Murray, Aja Louise, McKenzie, Karen
core   +1 more source

The role of HCFC1 in syndromic and non-syndromic intellectual disability

Medical Research Archives, 2020
Mutations in the HCFC1 gene are associated with cases of syndromic (cblX) and non-syndromic intellectual disability. Syndromic individuals present with severe neurological defects including intractable epilepsy, facial dysmorphia, and intellectual disability. Non-syndromic individuals have also been described and implicate a role for HCFC1 during brain
Victoria L, Castro, Anita M, Quintana
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The genetic basis of non-syndromic intellectual disability: a review [PDF]

Journal of Neurodevelopmental Disorders, 2010
Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result of genetic mutation. Where ID is present together with additional clinical symptoms or physical anomalies, there is often sufficient information available for the diagnosing physician to identify a known syndrome, which may then educe the identification ...
Kaufman, Liana, Ayub, Muhammad, Vincent, John B   +2 more
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Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction

Clinical Case Reports, 2022
KMT2E‐related neurodevelopmental disorder is a recently described intellectual disability syndrome often with speech difficulties. Here, we describe an individual with a heterozygous frameshift variant in KMT2E (NM_182931.2:c.2334_2337delTTAC, p ...
Nicolas J. Abreu, Amy E. Siemon, Adriane L. Baylis, Richard E. Kirschner, Ruthann B. Pfau, Mai‐Lan Ho, Scott E. Hickey, Kristen V. Truxal   +7 more
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Intellectual disability as a comorbidity in Tourette syndrome: a case report

Postępy Psychiatrii i Neurologii, 2022
This case report of Tourette syndrome with intellectual disability as a comorbid condition may help us learn more about neuropsychiatric disorders as a comorbid condition. Increased knowledge and a better understanding of the pathophysiology of the disease may help with the management of it.We report on a 12-year-old male patient with motor and vocal ...
Sarongku, Tommy, Trisnawati, Sri Yenni, Samatra, Dewa Putu Gede Purwa   +2 more
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Physical Activity in People with Intellectual Disability: A Narrative Review

مجله پژوهش در علوم توانبخشی, 2019
Introduction: The levels of physical activity and exercise are two important factors to improve health in people with intellectual disability. Several studies addressed the level of physical activity, and the benefits, cautions, and principles of ...
Javid Mostamand, Hamzeh Baharlouei
doaj   +1 more source