Results 1 to 10 of about 1,305 (131)

ADNP Syndrome: A Qualitative Assessment of Symptoms, Therapies, and Challenges [PDF]

Children, 2023
ADNP syndrome is a neurodevelopmental disorder characterized by autism spectrum disorder (ASD), intellectual disability, sensory reactivity symptoms, facial dysmorphisms, and a wide variety of other physical and behavioral health manifestations. Research
Alexander Kolevzon, Jarrett Fastman
exaly   +6 more sources

The ADNP Syndrome and CP201 (NAP) Potential and Hope [PDF]

Frontiers in Neurology, 2020
Activity-dependent neuroprotective protein (ADNP) syndrome, also known as Helsmoortel-Van Der Aa syndrome, is a rare condition, which is diagnosed in children exhibiting signs of autism.
Illana Gozes
exaly   +7 more sources

An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome [PDF]

Human Genetics and Genomics Advances, 2022
Summary: Activity-dependent neuroprotective protein (ADNP) syndrome is a rare genetic condition associated with intellectual disability and autism spectrum disorder.
Alexander Kolevzon, Tess Levy, Sarah B Barkley   +2 more
exaly   +6 more sources

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome [PDF]

Clinical Epigenetics, 2019
Background ADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It is caused by truncating mutations in ADNP, which is involved in chromatin regulation.
Elizabeth J Bhoj, Bekim Sadikovic, Alan Stuart   +2 more
exaly   +8 more sources

Transient visual evoked potential abnormalities in ADNP syndrome. [PDF]

J Neurodev Disord
Background ADNP syndrome is a rare genetic disorder associated with global developmental delay/intellectual disability, autism, aberrant behavior, and medical comorbidities. Sensory symptoms represent a core clinical feature, even in those without autism
Levy T, Silver H, Benrey N, Siegel A, Layton C, Zemon V, Gordon J, Buxbaum JD, Kolevzon A, Siper PM.   +9 more
europepmc   +3 more sources

Early behavioral and developmental interventions in ADNP-syndrome: A case report of SWI/SNF-related neurodevelopmental syndrome. [PDF]

Mol Genet Genomic Med, 2020
Background Autism spectrum disorder (ASD) affects approximately one in 59 children. Variants in the activity‐dependent neuroprotector homeobox ADNP (OMIM #611386) gene may be one of the most common single‐gene causes of syndromic ASD.
Shillington A, Pedapati E, Hopkin R, Suhrie K, Suhrie K.   +4 more
europepmc   +5 more sources

Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome. [PDF]

Transl Psychiatry
Activity-dependent neuroprotective protein (ADNP) syndrome is a rare neurodevelopmental disorder resulting in intellectual disability, developmental delay and autism spectrum disorder (ASD) and is due to mutations in the ADNP gene. Ketamine treatment has
Buxbaum Grice AS, Sloofman L, Levy T, Walker H, Ganesh G, Rodriguez de Los Santos M, Amini P, Buxbaum JD, Kolevzon A, Kostic A, Breen MS.   +10 more
europepmc   +5 more sources

Distinct Impairments Characterizing Different ADNP Mutants Reveal Aberrant Cytoplasmic-Nuclear Crosstalk

Cells, 2022
(1) Background: Activity-dependent neuroprotective protein (ADNP) is essential for neuronal structure and function. Multiple de novo pathological mutations in ADNP cause the autistic ADNP syndrome, and they have been further suggested to affect Alzheimer’
Gidon Karmon, Illana Gozes, Yanina Ivashko-Pachima   +2 more
exaly   +3 more sources

<i>ADNP</i>-Related Neurodevelopmental Disorder: The First Turkish Case Series with Novel Variants and Reduced Intrafamilial Penetrance. [PDF]

Diagnostics (Basel)
Background/Objectives: Helsmoortel–Van der Aa syndrome (HVDAS), or ADNP syndrome, is a neurodevelopmental disorder characterized by cognitive deficits, dysmorphic features, and multisystem involvement. While typically arising de novo, familial cases with
Kablan A, Sezer A, Deniz A, Taşdelen E, Dinçsoy Bir F, Kolkıran A, Ataseven Kulalı M, Teralı K, Işık E.   +8 more
europepmc   +2 more sources

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome. [PDF]

Brain Sci
Background: Helsmoortel-Van der Aa syndrome (HVDAS) is a rare multisystemic neurodevelopmental disorder caused by pathogenic variants in the Activity-Dependent Neuroprotective Homeobox Protein (ADNP) gene.
Harutyunyan L, D'Incal CP, Jansen AC, Meuwissen M, Van Dijck A, Kooy RF.   +5 more
europepmc   +2 more sources