A5091411387- Genetics and Neurodevelopmental Disorders
- Attention Deficit Hyperactivity Disorder
- Reading and Literacy Development
- Autism Spectrum Disorder Research
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Neurological and metabolic disorders
- HIV Research and Treatment
- Neuroscience, Education and Cognitive Function
- Metabolism and Genetic Disorders
- Educational and Psychological Assessments
- Neural and Behavioral Psychology Studies
- EEG and Brain-Computer Interfaces
- Infectious Encephalopathies and Encephalitis
- Neonatal and fetal brain pathology
- Immune Cell Function and Interaction
- Diet and metabolism studies
- Neurological Complications and Syndromes
- Epilepsy research and treatment
- Neuroscience and Music Perception
- Children's Physical and Motor Development
- Alcoholism and Thiamine Deficiency
- Porphyrin Metabolism and Disorders
- Developmental and Educational Neuropsychology
- HIV/AIDS drug development and treatment
Icahn School of Medicine at Mount Sinai
2013-2023
Center for Autism and Related Disorders
2022
Center for Special Minimally Invasive and Robotic Surgery
2015
Mount Sinai Hospital
2014
Mount Sinai Medical Center
2008
New York Proton Center
2007
North Shore University Hospital
1989-2004
New York University
1998-2004
Bronx-Lebanon Hospital Center
2001
Cornell University
1989-1997
22q13 deletion syndrome, also known as Phelan-McDermid is a neurodevelopmental disorder characterized by intellectual disability, hypotonia, delayed or absent speech, and autistic features. SHANK3 has been identified the critical gene in neurological behavioral aspects of this syndrome. The phenotype deficiency described primarily from case studies, with limited evaluation cognitive deficits. present study used prospective design inter-disciplinary clinical evaluations to assess patients...
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in has increased recent years due large-scale sequencing studies, systematic studies describing phenotype individuals harboring such lacking. We provide detailed clinical genetic data on 17...
Obstructive sleep apnea syndrome was studied in 32 children, aged 2 to 14 years, the sleep-wake disorders center at Montefiore Hospital and Medical Center during years 1977 1980. All children under-went all-night polysomnograms; 17 of these had surgery relieve airway obstruction seven a repeat polysomnographic study 4 6 weeks following surgery. There significant improvement number obstructive apneas other indices no effect on durations proportions various stages, efficiency, or awakenings.
Autism spectrum disorder (ASD) is now understood to have multiple genetic risk genes and one example SHANK3. SHANK3 deletions mutations disrupt synaptic function result in Phelan-McDermid syndrome (PMS), which causes a monogenic form of ASD with frequency at least 0.5% cases. Recent evidence from preclinical studies mouse human neuronal models deficiency suggest that insulin-like growth factor-1 (IGF-1) can reverse plasticity motor learning deficits. The objective this study was pilot IGF-1...
Abstract Visual evoked responses (VERs) to brief light flashes were recorded from occipital regions in a group of 30 “cortically blind” children aged 4 months 15 years and compared with those 31 similar age range who had the same type central nervous system diseases but without signs or symptoms blindness. The VERs analyzed for amplitude, number peaks, morphology, follwing method used previously by other authors. All some degree abnormality, there no significant differences between two...
Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying mutations and deletions have described presence autism spectrum (ASD) traits, intellectual disability, language impairment, psychiatric features. The goal present study was comprehensively characterize genetic clinical This is first prospectively examine genotype-phenotype relationship multiple with syndrome, using battery...
Individuals with Phelan-McDermid syndrome (PMS) present a wide range of developmental, medical, cognitive and behavioral abnormalities. Previous literature has begun to elucidate genotype-phenotype associations that may contribute the spectrum features. Here, we report results in cohort 170 individuals PMS. Genotypes were defined as Class I deletions (including SHANK3 only or ARSA and/or ACR RABL2B), II (all other deletions) sequence variants. Phenotype data derived prospectively from direct...
Abstract Background DDX3X syndrome is a recently identified genetic disorder that accounts for 1–3% of cases unexplained developmental delay and/or intellectual disability (ID) in females, and associated with motor language delays, autism spectrum (ASD). To date, the published phenotypic characterization this has primarily relied on medical record review; addition, behavioral dimensions have not been fully explored. Methods We carried out multi-day, prospective, detailed phenotyping 14...
Abstract Background FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delay, speech and language delays, externalizing behaviors. We previously evaluated nine children adolescents with to better characterize its phenotype. identified specific areas of interest be further explored, namely autism spectrum (ASD) internalizing Methods Here, we assess a prospective cohort additional 17 individuals expand our initial...
Tests of attention, inhibition, working memory, motor learning, and problem solving--functions associated with the brain's frontal systems--were administered to 26 children attention-deficit/hyperactivity disorder learning disabilities (ADHD + LD), 22 LD only, 10 ADHD only. Percentages abnormal test results significantly impaired scores were higher for two groups than ADHD-only group. The differed on some tests attention-inhibition-cueing, solving, performing worse Abnormalities systems are...
PURPOSE: To evaluate proton magnetic resonance (MR) spectroscopy in children with the acquired immunodeficiency syndrome (AIDS) and to establish an age-dependent spectroscopic database of normal basal ganglia children. MATERIALS AND METHODS: Eighteen healthy 45 AIDS underwent both brain MR imaging single-voxel a long-echo-time point-resolved technique. A large part region interest studied at included ganglia. RESULTS: Seven patients progressive encephalopathy eight static had significantly...
SUMMARY Four infants with the ‘shaken infant syndrome’ are described. None had skull fractures and only one a subdural hematoma. All extensive retinal pre‐retinal hemorrhages. Follow‐up computerized tomography showed severe brain atrophy, multiple hypodense areas ventricular enlargement. Three of patients suffered severe, permanent damage, mental retardation, spasticity blindness. It is suggested that underlying pathogenesis this syndrome acutely increased intrathoracic pressure, transmitted...
Diagnosing adult ADHD is frequently problematic because behavioral information from the patient's childhood, and multiple informants who can delineate current behavior, are often unavailable. This preliminary study was designed to explore whether objective neuropsychological testing may be a useful adjunct in diagnosis of ADHD. Nineteen adults diagnosed with according DSM-IV criteria, along 10 controls, were assessed using battery which comprised tests assessing linguistic, visual-spatial...
Abstract A 6‐year‐old girl had subacute onset of hypoventilation and apnea during sleep. Diffuse dysautonomic changes were identified, including dilated, nonreactive pupils, decreased tearing sweating, abnormal temperature cardiovascular control. All‐night polysomnographic studies revealed frequent obstructive central sleep episodes. Her serum contained cytotoxic antineuroblastoma immunoglobulins. She died two years later The general pathological examination a ganglioneuroma originating in...
Abstract Background Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by haploinsufficiency of the SHANK3 gene and characterized global developmental delays, deficits in speech motor function, autism spectrum (ASD). Monogenic causes ASD such as PMS are well suited to investigations with novel therapeutics, interventions can be targeted based on established genetic etiology. While preclinical studies have demonstrated that neuropeptide oxytocin reverse...