Results 181 to 190 of about 55,611 (300)

Impacts of hearing history, etiology, vestibular and balance function, and socioeconomic marginalization on developmental outcomes in children with cochlear implants. [PDF]

Sci Rep
Hazen M, Cushing SL, Gordon KA.
europepmc   +1 more source

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Clinical Genetics, EarlyView.
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel, Xiaonan Zhao, Nichole M. Owen, Tia Gordon, Mahshid S. Azamian, Eric C. Kao, Fan Xia, Xi Luo, Jill A. Rosenfeld, Seema R. Lalani, Allison P. Ortega, Steven B. Bleyl, Florence Petit, Sulekha Rajagopolan, Bénédicte Demeer, Meredith K. Gillespie, Lijia Huang, Matthew Osmond, Kym M. Boycott, Kyra E. Stuurman, Marjon A. van Slegtenhorst, Haley Soller, Céline Jost, Aurore Garde, Hana Safraou, Laurence Faivre, Victor Faundes, Daryl A. Scott   +27 more
wiley   +1 more source

The Audiological Aspect of Beckwith-Wiedemann Syndrome: A Systematic Review. [PDF]

Genes (Basel)
Parretta S, Pellegrino M, Luppi L, Braglia E, Genovese E, Soloperto D.   +5 more
europepmc   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Adult Involvement in the Exercise of Agency in Child Protection: Children's Desires and Perceptions

Children &Society, EarlyView.
ABSTRACT The agency of children in child protection services (CPS) facing rules and restrictions due to their protection status is not well known. Agency is defined as conscious and purposeful thoughts and actions by an agent that have an effect in social relationships and institutions. To our knowledge, the literature on children's agency in CPS gives
Amaryllis Mirlycourtois, Sylvie Drapeau, Julie Marcotte   +2 more
wiley   +1 more source

A case of relapsing polychondritis: a diagnostic challenge in recurrent cartilaginous inflammation and hearing loss-A case report. [PDF]

J Med Case Rep
Dari MA, Gdey MM, Wondimu ZT, Assefa NC.
europepmc   +1 more source

Short‐Term Complications Are Rare After Cholesteatoma Surgery

Clinical Otolaryngology, EarlyView.
ABSTRACT Objective To evaluate the incidence and nature of short‐term complications following cholesteatoma surgery in a heterogeneous cohort. Design A retrospective cohort study including complete coverage of cholesteatoma surgery in a Swedish region between 1 January 2005 and 31 December 2015.
Agnes Modée Borgström, Cecilia Engmér Berglin, Johan Knutsson, Åsa Bonnard   +3 more
wiley   +1 more source

Cochlear Implantation Following Neonatal Meningitis: A Rare Case Report. [PDF]

Case Rep Otolaryngol
Hošnová D, Urík M, Šíma J, Kruntorád V.   +3 more
europepmc   +1 more source

Characteristics of unilateral cerebral palsy according to gestational age at birth: A retrospective study

Developmental Medicine &Child Neurology, EarlyView.
Unilateral cerebral palsy (CP) affects 826 children in the Canadian CP Registry: 69% born at term, 15% 32 to 37 weeks, and 16% less than 32 weeks. Gestational age at birth did not affect impairments such as vision or hearing impairment, ambulation, seizures, or feeding difficulty.
Johanie Victoria Piché, Nafisa Hussein, Adam Kirton, Darcy Fehlings, Maryam Oskoui, Michael Shevell, Mary Dunbar   +6 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source