Results 121 to 130 of about 3,582 (237)

Severe Learning Disabilities and Challenging Behaviours [PDF]

, 1994

core   +1 more source

Telenursing on primary family caregivers and children with disabilities: a scoping review. [PDF]

Front Pediatr
Nishigaki K, Yamaji N, Adachi N, Kamei T, Kobayashi K, Kakazu S, Yonekura Y.   +6 more
europepmc   +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

Inclusive Education for Children With Disabilities in Bangladesh: Systemic Barriers, Lessons From Low- and Middle-Income Countries, and Policy Pathways. [PDF]

Health Sci Rep
Mamun AA, Kayenat MSA.
europepmc   +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

The A.BA.CO. Project and Efforts to Optimize Access to the Sounds of Learning. [PDF]

Audiol Res
Orzan E, Gambacorta V, Ricci G.
europepmc   +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

Vision Restoration to People with Long-Term Blindness Using the Brain-Computer Interface Technology: A Sociotechnical Research Framework to Improve Usefulness for Users. [PDF]

Patient Prefer Adherence
Smutny Z, Hudec M, Kožuh I.
europepmc   +1 more source

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

Teachers' Voice-Related Quality of Life in Relation to Environmental Noise in Schools: A Multidimensional Study Using VHI Test and Listen Responsibly App. [PDF]

Audiol Res
Frangipane J, Viola P, Minici R, Scarpa A, Astorina A, Aragona T, Avallone E, Gioacchini FM, De Luca P, Ricci G, Gambacorta V, Orzan E, Chiarella G.   +12 more
europepmc   +1 more source