Results 141 to 150 of about 65,615,992 (302)

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

The Health of Children and Young People with Chronic Conditions and Disabilities in New Zealand (2010)

, 2015
Children and young people with disabilities and chronic require a range of health and disability support services in order to reach their potential, and it is undesirable that a paucity of data should preclude them featuring in prioritisation, planning ...
Adams, Judith, Craig, Elizabeth, McDonald, Gabrielle, Reddington, Anne, Oben, Glenda, Wicken, Andrew   +5 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

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

An exploration of management strategies for anxiety in children and young people with learning disabilities and autism [PDF]

Although parents’ involvement has been identified as important for interventions for their children and young people, little research is conducted to explore parental management strategies for anxiety in children and young people with mild to moderate ...
Gobrial, Ereny
core  

Mental Health Stigma in Psychiatric Genetics: Insights and Recommendations From the ISPG Member Survey on Stigma

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Little is known about how stigma is perceived within psychiatric genetics, a field increasingly central to public discussions about heredity, neurodiversity, and psychiatric risk. Understanding how stigma is perceived and experienced by psychiatric geneticists is important for guiding responsible communication and future stigma‐reduction ...
Anaïs B. Thijssen, Elleke Tissink, Reeteka Sud, Mandy Johnstone, Richard Josiassen, Andrea Lahti, Laura Huckins, Ariana Page, Stigma Reduction Interest Group of the ISPG, Jordan W. Smoller, Jehannine Austin, Janneke Zinkstok, Sarah E. Medland, Rada Veeneman, Anna R. Docherty   +14 more
wiley   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

Understanding the wider needs of children with disabilities

Community Eye Health Journal, 2013
It is easy for all of us to focus in on our own area of expertise, and treat just one aspect of a child’s health. For the typical community eye worker this focus is, of course, on providing eye care. In reality, most children and their families will have
Maria Zuurmond
doaj  

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source