Results 121 to 130 of about 244,000 (312)

Visual search in neurodevelopmental disorders: evidence towards a continuum of impairment [PDF]

, 2021
Daniela Canu, Chara Ioannou, Katarina Müller, Berthold Martin, Christian Fleischhaker, Monica Biscaldi, André Beauducel, Nikolaos Smyrnis, Ludger Tebartz van Elst, Christoph Klein   +9 more
openalex   +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

Sociodemographic predictors of mental health service utilization among young adults with support in daily living in Sweden: a register-based study

BMC Psychiatry
Background An increasing number of young adults in Sweden are being granted support in daily living through social services. To enhance service planning and resource allocation for this growing group of young service users, we aimed to provide an ...
Jenny Meyer, Sergej Engström, Maria Löthberg, Steve Berggren, Adriana Ramirez, Sonya Girdler, Tatja Hirvikoski, Sven Bölte, Ulf Jonsson   +8 more
doaj   +1 more source

Neurodevelopmental Disorder

Psychological Counseling and Psychotherapy, 2019
An approach to define a neurodevelopment disorders, intellectual, neuromotor and autism spectrum disabilities, but also of that wide border area that falls within the current definition of Special Educational Needs (SEDs), through a comparison between neuropsychiatric and pedagogical perspectives, focusing on two complementarity disciplines, which can ...
openaire   +4 more sources

White matter and neurodevelopmental disorders: honoring Jean De Vellis through the work of the NICHD-funded intellectual and developmental disabilities research centers [PDF]

, 2019
Heather C. Hazlett, Vittorio Gallo
openalex   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders

, 2022
Amelle Shillington, Martine Lamy, Kelli C. Dominick, Michael T. Sorter, Craig A. Erickson, Robert J. Hopkin   +5 more
openalex   +1 more source

An Experimental Methodology for Introducing Educational Robotics and Storytelling in Therapeutical Activities for Children with Neurodevelopmental Disorders [PDF]

, 2023
Elena Peribáñez, Sofía Bayona, José San Martín, Ana Verde Trabada, Carlos Garre, Janika Leoste, Luis Pastor   +6 more
openalex   +1 more source