Results 51 to 60 of about 172,875 (363)

Factors contributing to communication skills development in cochlear implanted children [PDF]

Vojnosanitetski Pregled, 2015
Background/Aim. Over the last 10 years more than 300 persons received cochlear implant in Serbia and more than 90% of the recipients were children under 10 years of age.
Ostojić Sanja, Đoković Sanja, Radić-Šestić Marina, Nikolić Mina, Mikić Branka, Mirić Danica   +5 more
doaj   +1 more source

Attitudes and experiences regarding preventive strategies for the deaf population in Western New York.

PLOS Global Public Health, 2023
People for whom English is a second language, such as the deaf population, often have unequal access to health information and low health literacy. In the context of a wider study on risk of tick-borne illness in deaf communities, we explored barriers ...
Lorne Farovitch, Carol Padden, Edwin vanWijngaarden, Benjamin Miller, Brian Leydet, Timothy Dye   +5 more
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

“It’s beyond enough”: teachers’ experiences and perspectives of rehabilitation inclusion for working with deaf and hard of hearing children in rural areas of China

BMC Public Health
Background Evidence suggests that individuals who are deaf and hard of hearing (DHH) are a heterogeneous population and may present with their unique needs that set them apart from general disability group.
Zhizhuo Wang, Wangwei Lin, Hong Qiu, Zebo Lan   +3 more
doaj   +1 more source

Orthographic influences, vocabulary development and phonological awareness in deaf children who use cochlear implants [PDF]

, 2009
In the current study, we explore the influence of orthographic knowledge on phonological awareness in children with cochlear implants and compare developmental associations to those found for hearing children matched for word reading level or ...
Rajput, Kaukab, James, Deborah, Goswami, Usha, Brinton, Julie   +3 more
core   +1 more source

Associations Between Comorbidities, Developmental Status, and Disease Severity in Children With Autism Spectrum Disorder: A Multicenter Cross‐Sectional Study in China

Autism Research, EarlyView.
ABSTRACT Children with autism spectrum disorder (ASD) frequently present with co‐occurring conditions that can influence autism symptom severity and complicate clinical management. However, studies with clinician‐confirmed diagnoses in non‐Western populations remain limited.
Dizhou Pang, Guiqin Duan, Qing Shang, Huichun Zhang, Binbin Wang, Huaili Ding, Huihui Kang, Yue Zhao, Yuxia Lu, Gai Tian, Li Zhang, Wu Jiang, Ganyu Wang, Cailing Liang, Lingling Zhang, Bingbing Li, Zhenghua Li, Chunlan Song, Yanyan Yang, Yazhe Wang, Kaichen Yue, Yongbin Lang, Jiatian Liu, Xiaoli Zhang, Yiran Xu, Changlian Zhu   +25 more
wiley   +1 more source