Results 101 to 110 of about 2,601,816 (350)

The Validity of the Child and Adolescent Intellectual Disability Screening Questionnaire (CAIDS-Q) with children aged 6–7 years, 11 months: A brief report [PDF]

, 2013
We examined the performance of the Child and Adolescent Intellectual Disability Screening Questionnaire with 103 young children aged 6–7 years, 11 months referred to mental health services.
Murray, Aja Louise, McKenzie, Karen, Murray, George   +2 more
core   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Impact of Covid-19 on Intellectual Disability [PDF]

This webinar seeks to raise awareness of the physical health needs of people with intellectual disability as well as explore key determinants of health inequities. This is an opportunity to review new ideas and initiatives that aim to improve the quality
Chauhan, Umesh
core   +4 more sources

Advances in understanding – genetic basis of intellectual disability [version 1; referees: 2 approved]

F1000Research, 2016
Intellectual disability is the most common developmental disorder characterized by a congenital limitation in intellectual functioning and adaptive behavior.
Pietro Chiurazzi, Filomena Pirozzi
doaj   +1 more source

A rare cause of intellectual disability

A seven-year-old female was followed in a developmental clinic from the age of nine months due to delayed psychomotor development. The first physical examination showed a newborn with irritability and a large anterior fontanelle.
Oliveira, Íris, Fernandes, Andreia, Rodrigues, Márcia, Mendonça, Carla, Silva, Noémia, Pereira, Mafalda   +5 more
core   +1 more source

Perspectives on family caregiving of people aging with intellectual disability affected by dementia: Commentary from the International Summit on Intellectual Disability and Dementia [PDF]

, 2018
This article, an output of the 2016 International Summit on Intellectual Disability and Dementia, examines familial caregiving situations within the context of a support-staging model for adults with intellectual disability (ID) affected by dementia ...
Frode Larsen, Watchman, Karen, Berankova, Anna, Crowe, Jim, Jokinen, Nancy, Kathy Service, Matthew P. Janicki, Heloísa Santos, Flávia, Mary Hogan, Janicki, Matthew, Karen Watchman, Service, Kathy, Flávia Heloísa Santos, Hogan, Mary, Nancy Jokinen, Anna Beránková, Jim Crowe, Larsen, Frode, Santos, Flavia, Janicki, Matthew P., Tiziano Gomiero, Gomiero, Tiziano   +21 more
core   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Detection of ictal apnea refines the clinical spectrum of ATRX syndrome

Epilepsy & Behavior Reports
Alpha-thalassemia X-linked intellectual disability syndrome (ATRX) is a rare genetic disorder caused by mutations in the ATRX gene. It is characterized by distinct dysmorphic features, alpha thalassemia, varying degrees of intellectual disability, and ...
Galal Banat, Friedrich G. Woermann, Rami Abou Jamra, Christian G. Bien, Christian Brandt   +4 more
doaj   +1 more source

Stigma, Social Comparison and Self-Esteem in Adults with an Intellectual Disability [PDF]

, 2012
Background: The paper examines the perception of stigma in 43 adults with an intellectual disability, the relationship this has with their psychological well-being and whether the process of social comparison has a moderating effect on this relationship.
Paterson, Lucy, McKenzie, Karen, Lindsay, William   +2 more
core   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source