Disease: Dysmorphism abnormal vocalization mental retardation
- 15q13.3 homozygous knockout mouse model display epilepsy-, autism- and schizophrenia-related phenotypes
- 16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions
- A general review of the otolaryngologic manifestations of Down Syndrome
- A Retrospective Video Analysis of Canonical Babbling and Volubility in Infants with Fragile X Syndrome at 9-12 Months of Age
- A single episode of early-life status epilepticus impacts neonatal ultrasonic vocalization behavior in the Fmr1 knockout mouse
- A study of voice and non-voice processing in Prader-Willi syndrome
- AAC intervention using a VOCA for deaf children with multiple disabilities who received cochlear implantation
- Abnormal processing of emotional prosody in Williams syndrome: an event-related potentials study
- Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions
- Acoustic properties of early vocalizations in infants with fragile X syndrome
- Advancing imitation and requesting skills in toddlers with Down syndrome
- Aerodynamic and acoustic characteristics of voice in children with down syndrome-A systematic review
- Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3
- Analyses of Sustained Vowels in Down Syndrome (DS): A Case Study Using Spectrograms and Perturbation Data to Investigate Voice Quality in Four Adults With DS
- Anesthesia for tonsillectomy in a child with Klippel-Feil Syndrome associated with Down Syndrome. Case report
- Atypical hemispheric asymmetry in the perception of negative human vocalizations in individuals with Williams syndrome
- Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control
- Auditory evoked potentials in children and adolescents with Down syndrome
- Automatic vocalisation-based detection of fragile X syndrome and Rett syndrome
- Bardet-Biedl Syndrome Presenting With Bifid Epiglottis: A Case Report and Review of Literature
- Behavioral abnormalities in the Fmr1-KO2 mouse model of fragile X syndrome: The relevance of early life phases
- Behavioral Markers of Emergent Stranger Anxiety in Infants and Toddlers with Fragile X Syndrome
- Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
- Bilateral vocal cord paralysis and hypothyroidism as presenting symptoms of Williams-Beuren syndrome: a case report
- Biobehavioral indicators of social fear in young children with fragile X syndrome
- Biomechanical Description of Phonation in Children Affected by Williams Syndrome
- Case report : usefulness of the airwayscope for difficult intubations in a pediatric patients with Coffin-Siris syndrome
- CBP histone acetyltransferase activity regulates embryonic neural differentiation in the normal and Rubinstein-Taybi syndrome brain
- Characterization of ultrasonic vocalizations of Fragile X mice
- Clinician vs. Machine: Estimating Vocalizations Rates in Young Children With Developmental Disorders
- Cochlear Implantation in children with CHARGE syndrome
- Communicative gestures and vocabulary development in 36-month-old children with Down's syndrome
- Comparing the effects of echoic prompts and echoic prompts plus modeled prompts on intraverbal behavior
- Comprehensive analysis of ultrasonic vocalizations in a mouse model of fragile X syndrome reveals limited, call type specific deficits
- Consonant and syllable complexity of toddlers with Down syndrome and mixed-aetiology developmental delays
- Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder
- Diagnosis and treatment of otitis media with effusion: CODEPEH recommendations
- Difficult intubation caused by an immature upper airway in a patient with cri-du-chat syndrome: a case report
- Duplication of GTF2I results in separation anxiety in mice and humans
- Dyssynchrony and perinatal psychopathology impact of child disease on parents-child interactions, the paradigm of Prader Willi syndrom
- Early metformin treatment: An effective approach for targeting fragile X syndrome pathophysiology
- Early motor and pre-linguistic verbal development in Prader-Willi syndrome - A case report
- Early Neurobehavioral Characterization of the CD Mouse Model of Williams-Beuren Syndrome
- Early social enrichment rescues adult behavioral and brain abnormalities in a mouse model of fragile X syndrome
- Effects of mother's imitation on speech sounds in infants with Down syndrome
- Emotion recognition by children with Down syndrome: a longitudinal study
- Enhanced Memory for Vocal Melodies in Autism Spectrum Disorder and Williams Syndrome
- Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits
- Exploring the zebra finch Taeniopygia guttata as a novel animal model for the speech-language deficit of fragile X syndrome
- Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies
- Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models
- Hearing the feeling: Auditory emotion perception in Williams syndrome
- High-throughput analysis of vocalizations reveals sex-specific changes in Fmr1 mutant pups
- Hypersociability in the Angelman syndrome mouse model
- Implementation of an Intervention Plan for Emotional Development in People with Down Syndrome
- Increasing the vocal responses of children with autism and developmental disabilities using manual sign mand training and prompt delay
- Intensive treatment of dysarthria in two adults with Down syndrome
- Intensive Voice Treatment (Lee Silverman Voice Treatment [LSVT LOUD]) for Children With Down Syndrome: Phase I Outcomes
- Laryngeal Aerodynamic Analysis of Glottal Valving in Children With Down Syndrome
- Laryngeal pathologies in dysphonic children with Down Syndrome
- Loss of cGMP-dependent protein kinase II alters ultrasonic vocalizations in mice, a model for speech impairment in human microdeletion 4q21 syndrome
- Loss-of-function analyses of the fragile X-related and dopamine receptor genes by RNA interference in the cricket Gryllus bimaculatus
- Male-specific alterations in structure of isolation call sequences of mouse pups with 16p11.2 deletion
- Minocycline treatment reverses ultrasonic vocalization production deficit in a mouse model of Fragile X Syndrome
- Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder
- Multiple Early-Life Seizures Alters Neonatal Communicative Behavior in Fmr1 Knockout Mice
- Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations
- Neurobehavioral Alterations in a Genetic Murine Model of Feingold Syndrome 2
- New-Onset Abnormal Vocalizations in an Adult Woman With Down Syndrome
- Objective vocal parameters in Farsi-speaking adults with Down syndrome
- Obstacles to communication in children with cri du chat syndrome
- Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome
- Perinatal supplementation with omega-3 fatty acids corrects the aberrant social and cognitive traits observed in a genetic model of autism based on FMR1 deletion in rats
- Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy
- Phosphodiesterase 2A inhibition corrects the aberrant behavioral traits observed in genetic and environmental preclinical models of Autism Spectrum Disorder
- Prenatal treatment with preimplantation factor improves early postnatal neurogenesis and cognitive impairments in a mouse model of Down syndrome
- Quantification of vocal tract configuration of older children with Down syndrome: a pilot study
- Rates of Prelinguistic Communication and Early Symbol Use in Young Children With Down Syndrome: Using a Progress-Monitoring Tool to Model Growth
- Reduced phenotypic severity following adeno-associated virus-mediated Fmr1 gene delivery in fragile X mice
- Relations between social-perceptual ability in multi- and unisensory contexts, autonomic reactivity, and social functioning in individuals with Williams syndrome
- Reported communication ability of persons with trisomy 18 and trisomy 13
- Reversal of ultrasonic vocalization deficits in a mouse model of Fragile X Syndrome with minocycline treatment or genetic reduction of MMP-9
- Sex-specific modulation of early life vocalization and cognition by Fmr1 gene dosage in a mouse model of Fragile X Syndrome
- Social functioning and autonomic nervous system sensitivity across vocal and musical emotion in Williams syndrome and autism spectrum disorder
- Spectral and temporal properties of calls reveal deficits in ultrasonic vocalizations of adult Fmr1 knockout mice
- Speech impairment in Down syndrome: a review
- Temporal and spectral differences in the ultrasonic vocalizations of fragile X knock out mice during postnatal development
- The fetal brain transcriptome and neonatal behavioral phenotype in the Ts1Cje mouse model of Down syndrome
- The prevalence of airway problems in children with Down's syndrome
- The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK
- Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene
- Tracheal intubation in patients with Williams syndrome
- Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome
- Ultrasonic vocalization phenotypes in the Ts65Dn and Dp(16)1Yey mouse models of Down syndrome
- Ultrasonic vocalizations during male-female interaction in the mouse model of Down syndrome Ts65Dn
- Vocal cord immobility as a cause of aphonia in a child with 3p13p12 deletion syndrome encompassing FOXP1 gene
- Vocal cord paralysis after transcatheter patent ductus arteriosus closure with AMPLATZERTM Vascular Plug II
- Vocal interaction between children with Down syndrome and their parents
- Vocalization patterns in young children with Down syndrome: Utilizing the language environment analysis (LENA) to inform behavioral phenotypes
- Vowel Production in Children and Adults With Down Syndrome: Fundamental and Formant Frequencies of the Corner Vowels