Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a KCNK9 Variant.

Efficacy of bumetanide for cognitive improvement in children and adolescents with Down syndrome: study protocol of a randomised, double-blind, placebo-controlled trial.

Sleep-Disordered Breathing in Chung-Jansen Syndrome.

Factors impacting survival in individuals with Down syndrome-associated Alzheimer's disease.

Pregabalin in Pregnancy: Major Congenital Malformations, Other Birth Outcomes, and Neurodevelopmental Outcomes.

Sexual Health and Transition Needs in an Adolescent Girl With Attention-deficit Hyperactivity Disorder and Smith-magenis Syndrome.

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

Effects of Metformin on children with Fragile X Syndrome: a randomized, double-blind, placebo-controlled trial.

Towards Characterizing the Developmental and Behavioral Profiles of ODLURO Syndrome: Shared Features With Wiedemann-Steiner Syndrome and Kabuki Syndrome.

Sleep in a mouse model of fragile X syndrome is resistant to metabolic manipulations.

The De Novo p.(Ser802Phe) Variant Causes Helsmoortel-Van der Aa/ ADNP Syndrome in a 24-Year-Old Woman and Is Predicted to Perturb ADNP-DNA Affinity.

Specialists' perceptions of clinical instruments, practices, and staging of DS-AD: Results from an international survey.

Scheduled feeding improves behavioral outcomes and reduces inflammation in a mouse model of fragile X syndrome.

The Occurrence of Obstructive Sleep Apnea and Its Association With Alzheimer Dementia in Medicaid-Enrolled Adults With Down Syndrome, 2011-2019.

Parental Stress and Family Quality of Life in Families of Individuals Living With Angelman Syndrome.

Characterizing healthcare resource utilization in two rare diseases (Kleefstra syndrome and SLC6A1 epileptic encephalopathy) using multimodal real-world data.

Genetically determined Alzheimer's disease research advances: The Down Syndrome & Autosomal Dominant Alzheimer's Disease 2024 Conference.

Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1.

Fragile X syndrome: genetic and clinical profile in the Hong Kong Chinese population.

Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Cell-type specific global reprogramming of the transcriptome and epigenome in induced neurons with the 16p11.2 neuropsychiatric CNVs.

Medial temporal lobe atrophy in Down syndrome along the Alzheimer's disease continuum.

Neonatal obstructive sleep apneas in a mouse model of Down syndrome.

Psychotropic Medication Use in 48,XXYY Syndrome.

Respiratory and airway disorders in children with Down Syndrome: a review of the clinical challenges and management.

Christianson Syndrome Family Experiences: Results From Caregiver Interviews.

Molecular aspects of Angelman Syndrome: Defining the new path forward.

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.

Regional Brain Metabolism across the Alzheimer's Disease Continuum in Down Syndrome.

Circadian rhythm defects in Prader-Willi syndrome neurons.

Multivariate deep phenotyping reveals behavioral correlates of non-restorative sleep in 22q11.2 deletion syndrome.

Respiratory support in patients with Down syndrome: a systematic review.

PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism.

FMR1 Disorders: Basics of Biology and Therapeutics in Development.

Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society.

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

Posterior Cortical Atrophy Due to Alzheimer Disease in a Person With Down Syndrome: A Case Report.

Sleep correlates of behavior functioning in Cornelia de Lange syndrome.

Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.

The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.

Association between sleep disturbances and challenging behavior in children and adolescents with Angelman syndrome.

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.

Case Report: A Case of a Patient with Smith-Magenis Syndrome and Early-Onset Parkinson's Disease.

Characterising repetitive behaviours in children and adolescents with Down syndrome.

Circadian Rhythm and Sleep Analyses in a Fruit Fly Model of Fragile X Syndrome Using a Video-Based Automated Behavioral Research System.

Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior.

An investigation of sleep problems, gastrointestinal symptoms, comorbid psychopathology and challenging behavior in children and adolescents with Down Syndrome.

Insomnia Symptoms Are Associated with Measures of Functional Deterioration and Dementia Status in Adults with Down Syndrome at High Risk for Alzheimer's Disease.

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.

A case of Pitt-Hopkins syndrome: psychopharmacological approach for anxiety, insomnia, and agitation.

Dental findings and intravenous sedation in a patient with Potocki-Lupski syndrome: A case report.

DHCR7 links cholesterol synthesis with neuronal development and axonal integrity.

The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant.

A quantitative cross-sectional study of the burden of caring for patients with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex-associated epilepsy in Japan.

Age of Alzheimer's disease diagnosis in people with Down syndrome and associated factors: Results from the Horizon 21 European Down syndrome consortium.

Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children.

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.

State-of-the-art therapies for fragile X syndrome.

Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.

Symptoms and age of prodromal Alzheimer's disease in Down syndrome: a systematic review and meta-analysis.

Neural hyperexcitability in Angelman syndrome: Genetic factors and pharmacologic treatment approaches.

Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals.

Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.

Rett and Rett-related disorders: Common mechanisms for shared symptoms?

Health supervision for children and adolescents with 16p11.2 deletion syndrome.

Updates on Obesity in Prader-Willi Syndrome: From Genetics to Management.

Quality of life in Down syndrome in Brazil: a cross-sectional study.

Child characteristics associated with child quality of life and parenting stress in Angelman syndrome.

Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups.

Electroclinical Features of Epilepsy in Kleefstra Syndrome.

An adapted clinical global Impression of improvement for use in Angelman syndrome: Validation analyses utilizing data from the NEPTUNE study.

De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review.

Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.

Current and emerging treatment options for Angelman syndrome.

Psychiatric and neurological manifestations in adults with Smith-Magenis syndrome: A scoping review.

Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports.

Hyperphagia and Down Syndrome.

Multivariate patterns of disrupted sleep longitudinally predict affective vulnerability to psychosis in 22q11.2 Deletion Syndrome.

Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.

Generation and mutational analysis of a transgenic murine model of the human MAF mutation.

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey.

Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records.

A Novel Variant in VPS13B Underlying Cohen Syndrome.

The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants.

Consensus recommendations on sleeping problems in Phelan-McDermid syndrome.

TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.

Drosophila melanogaster as a Model to Study Fragile X-Associated Disorders.

Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the SLC6A1 Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male Patient.

Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature.

Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome.

Neurocognitive evaluation of children with down syndrome and obstructive sleep apnea syndrome.

STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes.

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.

The Impact of the COVID-19 Pandemic on School-Aged Children with Fragile X Syndrome.

Parent and Caregiver Perspectives towards Cannabidiol as a Treatment for Fragile X Syndrome.

Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response.

Delineating the CCDC22-related Ritscher-Schinzel syndrome phenotype in the original family.

Neural correlates of episodic memory in adults with Down syndrome and Alzheimer's disease.

Association between early and current gastro-intestinal symptoms and co-morbidities in children and adolescents with Angelman syndrome.

Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis.

Sleep EEG in young people with 22q11.2 deletion syndrome: A cross-sectional study of slow-waves, spindles and correlations with memory and neurodevelopmental symptoms.

Postnatal environmental enrichment enhances memory through distinct neural mechanisms in healthy and trisomic female mice.

Expanding the phenotype of TAB2 variants and literature review.

Detecting sleep apnea in adults with Down syndrome using WatchPAT: A feasibility study.

A Novel POGZ Variant in a Patient with Intellectual Disability and Obesity.

Koolen-de Vries syndrome associated with continuous spike-wave in sleep.

Sleep disturbances and behavior in Smith-Magenis syndrome.

Management of chronic musculoskeletal pain in an adult with Down syndrome using a modified pain neuroscience approach: a case report.

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

Different epilepsy course of a novel AHDC1 mutation in a female monozygotic twin pair.

First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1.

HIDEA syndrome: A rare cause of congenital hypoventilation in a premature infant.

A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.

The behavioural phenotype of SATB2-associated syndrome: a within-group and cross-syndrome analysis.

Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental Factors.

Conducting clinical trials in persons with Down syndrome: summary from the NIH INCLUDE Down syndrome clinical trials readiness working group.

Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome.

Evaluation of electroencephalography biomarkers for Angelman syndrome during overnight sleep.

Cognitive, Behavioral, and Sensory Profile of Pallister-Killian Syndrome: A Prospective Study of 22 Individuals.

Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.

The presentation, course and outcome of COVID-19 infection in people with Prader-Willi syndrome: unexpected findings from an international survey.

Modifiable child and caregiver factors that influence community participation among children with Down syndrome.

Children with neurodevelopmental disorders: how do they sleep?

The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review.

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.

Sleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort.

Sleep and daytime behavior in individuals with Christianson Syndrome.

[Sleep disturbance associated with Smith-Magenis syndrome].

Report of two children with global developmental delay in association with de novo TLK2 variant and literature review.

QT prolongation in patients with index evaluation for seizure or epilepsy is predictive of all-cause mortality.

Epilepsy features in ARID1B-related Coffin-Siris syndrome.

The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome.

Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith-Magenis syndrome: protocol for a series of N-of-1 trials.

Effects of chronic inhibition of phosphodiesterase-4D on behavior and regional rates of cerebral protein synthesis in a mouse model of fragile X syndrome.

Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association.

An Extremely Rare Case of Birk-Barel Syndrome With Severe Central Apneas.

Airwave oscillometry to measure lung function in children with Down syndrome.

The Neurological Manifestations of Phelan-McDermid Syndrome.

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.

Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.

Association of Apolipoprotein E ɛ4 Allele With Clinical and Multimodal Biomarker Changes of Alzheimer Disease in Adults With Down Syndrome.

Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient.

Genotype-Phenotype Correlations in Angelman Syndrome.

Neurological Phenotype of Mowat-Wilson Syndrome.

Focusing on Autism Spectrum Disorder in Xia-Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review.

Posteromedial Hypothalamic Deep Brain Stimulation for Refractory Aggressiveness in a Patient With Weaver Syndrome: Clinical, Technical Report and Operative Video.

The Behavioral and Psychological Symptoms of Dementia in Down Syndrome Scale (BPSD-DS II): Optimization and Further Validation.

Hyperactive behaviour in Angelman syndrome: the association with sleep problems and age of epilepsy onset.

Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.

Sleep-disordered breathing and its management in children with rare skeletal dysplasias.

Characterization of sleep habits of children with Sotos syndrome.

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.

Electro-clinical features in epileptic children with chromosome 15q duplication syndrome.

A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.

Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok-Fisher syndrome suggests the presence of a POU3F3-related SNIBFIS endophenotype: A case report.

Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile.

Abnormal electrophysiological phenotypes and sleep deficits in a mouse model of Angelman Syndrome.

Xia-Gibbs Syndrome: A Review of Literature.

Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia.

Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.

Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.

Clinical aspects of a large group of adults with Angelman syndrome.

Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome.

The adult phenotype of Schaaf-Yang syndrome.

Neurological phenotype of Potocki-Lupski syndrome.

Xia-Gibbs Syndrome: A Rare Case Report of a Male Child and Insight into Physiotherapy Management.

Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD.

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.

Behavior and cognitive functioning in Witteveen-Kolk syndrome.

Weight status and associated comorbidities in children and adults with Down syndrome, autism spectrum disorder and intellectual and developmental disabilities.

A de novo DDX3X Variant Is Associated With Syndromic Intellectual Disability: Case Report and Literature Review.

A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood.

Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study.

Management of Sleep Disturbances Associated with Smith-Magenis Syndrome.

Lessons learned from 40 novel PIGA patients and a review of the literature.

Prefrontal-hippocampal functional connectivity encodes recognition memory and is impaired in intellectual disability.

A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations.

OSA and Neurocognitive Impairment in Children With Congenital Heart Disease.

Angelman Syndrome: From Mouse Models to Therapy.

Mirtazapine for sleep disturbances in Angelman syndrome: a retrospective chart review of 8 pediatric cases.

De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.

Tatton-Brown-Rahman syndrome: Six individuals with novel features.

Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.

Associated syndromes in patients with Pierre Robin Sequence.

Polysomnographic Findings in Fragile X Syndrome Children with EEG Abnormalities.

Utility of the pictorial Epworth sleepiness scale in the adult down syndrome population.

FMRP has a cell-type-specific role in CA1 pyramidal neurons to regulate autism-related transcripts and circadian memory.

Obstructive Sleep Apnea in School-Aged Children Presented with Nocturnal Enuresis.

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).

Healthcare recommendations for Joubert syndrome.