keyword
https://read.qxmd.com/read/38731134/from-genotype-to-phenotype-of-polish-patients-with-pitt-hopkins-syndrome-concerning-the-quality-of-life-and-family-functioning
#1
JOURNAL ARTICLE
Marlena Telenga, Anna Rozensztrauch, Kaja Giżewska-Kacprzak, Robert Śmigiel
Background : Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder affecting psychomotor, social, and intellectual development, caused by a mutation in the TCF4 gene. The study aims to gather the phenotype and genotype data of PTHS patients from Poland and to assess the quality of life (QoL) and the impact of the disorders on the family. Methods : Eight families with PTHS participated in the study. To obtain data, the following standardized questionnaires were used: Questionnaire on Clinical Problems (QCP), the PedsQL™ Family Impact Module, and the QL-Disability Questionnaire...
April 29, 2024: Journal of Clinical Medicine
https://read.qxmd.com/read/38729067/challenges-with-computing-scalar-and-ad-hoc-implicatures-in-mandarin-speaking-4-8-year-old-autistic-children
#2
JOURNAL ARTICLE
Yi Esther Su, Yuhan Jiang
INTRODUCTION: Mixed findings have been reported about the computation of scalar or/and ad-hoc implicatures in primarily school-age autistic verbal children and adolescents: while some studies reported their struggles with both implicatures, others observed their strengths in computing scalar implicatures. This study extends the previous investigation by testing the derivation of scalar (including both number and quantifier) and ad-hoc implicatures of a younger group of Mandarin-speaking autistic 4-8-year-olds; moreover, we assess the biological, linguistic, and cognitive factors affecting children's implicature acquisition...
May 9, 2024: Journal of Communication Disorders
https://read.qxmd.com/read/38727699/evaluating-structure-and-content-of-parent-implemented-early-logopaedic-intervention-models-following-the-three-stages-of-communicative-development-in-children-with-cleft-lip-and-or-palate-systematic-literature-review-with-narrative-synthesis
#3
REVIEW
Mie Cocquyt, Timi Claeys, Anselme Derese, Stefaan Six, Johan Bilsen
BACKGROUND: The development of communication, speech and language follows three stages (development of the parent-child relationship, interactions and actual speech and language acquisition). Children born with cleft lip and/or palate are at increased risk of communicative problems while parents may be going through an emotionally difficult time. Early parent-implemented logopaedic intervention that supports both parents and child is important. Three systematic reviews have examined the effects of early speech and language interventions, but not their structure and content...
May 10, 2024: International Journal of Language & Communication Disorders
https://read.qxmd.com/read/38726473/impaired-speech-input-and-output-processing-abilities-in-children-with-cleft-palate-speech-disorder
#4
JOURNAL ARTICLE
Linrui Yang, Yue Mu, Yuxiang Zhai, Renji Chen
BACKGROUND: Cleft lip and palate is one of the most common oral and maxillofacial deformities associated with a variety of functional disorders. Cleft palate speech disorder (CPSD) occurs the most frequently and manifests a series of characteristic speech features, which are called cleft speech characteristics. Some scholars believe that children with CPSD and poor speech outcomes may also have weaknesses in speech input processing ability, but evidence is still lacking so far. AIMS: (1) To explore whether children with CPSD and speech output disorders also have defects in speech input processing abilities; (2) to explore the correlation between speech input and output processing abilities...
May 10, 2024: International Journal of Language & Communication Disorders
https://read.qxmd.com/read/38723268/exploring-health-related-social-needs-and-components-of-social-competence-following-childhood-traumatic-brain-injury
#5
JOURNAL ARTICLE
Libby Dart, Angela Ciccia
PURPOSE: Health-related social needs (HRSNs) impact general health care and educational outcomes for children with traumatic brain injury (TBI) and their families. Furthermore, children with TBI of all severities experience negative social competence outcomes chronically postinjury. However, studies have not investigated the relationship between HRSNs and social competence outcomes for children after TBI. The aim of this study was to identify the relationship between HRSNs and components of social competence (i...
May 9, 2024: American Journal of Speech-language Pathology
https://read.qxmd.com/read/38720271/sex-differences-during-development-in-cortical-temporal-processing-and-event-related-potentials-in-wild-type-and-fragile-x-syndrome-model-mice
#6
JOURNAL ARTICLE
Katilynne Croom, Jeffrey A Rumschlag, Michael A Erickson, Devin Binder, Khaleel A Razak
BACKGROUND: Autism spectrum disorder (ASD) is currently diagnosed in approximately 1 in 44 children in the United States, based on a wide array of symptoms, including sensory dysfunction and abnormal language development. Boys are diagnosed ~ 3.8 times more frequently than girls. Auditory temporal processing is crucial for speech recognition and language development. Abnormal development of temporal processing may account for ASD language impairments. Sex differences in the development of temporal processing may underlie the differences in language outcomes in male and female children with ASD...
May 8, 2024: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/38718252/learning-to-implement-dialogic-reading-through-video-based-online-training-a-preliminary-study
#7
JOURNAL ARTICLE
Veronica P Fleury, Lindsay Dennis, Alice N Williams
PURPOSE: Dialogic reading (DR) is an evidence-based method for reading with young children that is associated with improvements in children's oral language skills. There is, however, a lack of consensus on (a) how to train educators to deliver the intervention and (b) methods for assessing implementation fidelity. We designed this study to provide preliminary data about the viability of online video modules as an initial training option within a future tiered training model. METHOD: We employed a within-subject repeated-measures group design to evaluate educators' ( N = 20) implementation of DR after viewing training videos...
May 8, 2024: Language, Speech, and Hearing Services in Schools
https://read.qxmd.com/read/38715655/perisylvian-and-hippocampal-anomalies-in-individuals-with-pathogenic-grin2a-variants
#8
JOURNAL ARTICLE
Daisy G Y Thompson-Lake, Frederique J Liegeois, Ruth O Braden, Graeme D Jackson, Samantha J Turner, Lottie Morison, Michael Hildebrand, Ingrid E Scheffer, Angela T Morgan
BACKGROUND AND OBJECTIVES: Pathogenic variants in GRIN2A are associated with a spectrum of epilepsy-aphasia syndromes (EASs). Seizures as well as speech and language disorders occur frequently but vary widely in severity, both between individuals and across the life span. The link between this phenotypic spectrum and brain characteristics is unknown. Specifically, altered brain networks at the root of speech and language deficits remain to be identified. Patients with pathogenic variants in GRIN2A offer an opportunity to interrogate the impact of glutamate receptor dysfunction on brain development...
April 2024: Neurology. Genetics
https://read.qxmd.com/read/38713817/how-hearing-loss-and-cochlear-implantation-affect-verbal-working-memory-evidence-from-adolescents
#9
JOURNAL ARTICLE
Susan Nittrouer
PURPOSE: Verbal working memory is poorer for children with hearing loss than for peers with normal hearing (NH), even with cochlear implantation and early intervention. Poor verbal working memory can affect academic performance, especially in higher grades, making this deficit a significant problem. This study examined the stability of verbal working memory across middle childhood, tested working memory in adolescents with NH or cochlear implants (CIs), explored whether signal enhancement can improve verbal working memory, and tested two hypotheses proposed to explain the poor verbal working memory of children with hearing loss: (a) Diminished auditory experience directly affects executive functions, including working memory; (b) degraded auditory inputs inhibit children's abilities to recover the phonological structure needed for encoding verbal material into storage...
May 7, 2024: Journal of Speech, Language, and Hearing Research: JSLHR
https://read.qxmd.com/read/38711098/the-relationship-between-gamma-band-neural-oscillations-and-language-skills-in-youth-with-autism-spectrum-disorder-and-their-first-degree-relatives
#10
JOURNAL ARTICLE
Vardan Arutiunian, Megha Santhosh, Emily Neuhaus, Heather Borland, Chris Tompkins, Raphael A Bernier, Susan Y Bookheimer, Mirella Dapretto, Abha R Gupta, Allison Jack, Shafali Jeste, James C McPartland, Adam Naples, John D Van Horn, Kevin A Pelphrey, Sara Jane Webb
BACKGROUND: Most children with Autism Spectrum Disorder (ASD) have co-occurring language impairments and some of these autism-specific language difficulties are also present in their non-autistic first-degree relatives. One of the possible neural mechanisms associated with variability in language functioning is alterations in cortical gamma-band oscillations, hypothesized to be related to neural excitation and inhibition balance. METHODS: We used a high-density 128-channel electroencephalography (EEG) to register brain response to speech stimuli in a large sex-balanced sample of participants: 125 youth with ASD, 121 typically developing (TD) youth, and 40 unaffected siblings (US) of youth with ASD...
May 7, 2024: Molecular Autism
https://read.qxmd.com/read/38709437/tinnitus-in-children
#11
REVIEW
Derek J Hoare, Harriet Smith, Veronica Kennedy, Kathryn Fackrell
This perspective reviews the current state of the art and literature on tinnitus in children, prevalence and risk factors, clinical management, and future priorities for healthcare provision and research. Most research in the field to date appears to be prevalence studies, which have reached dramatically different estimates; this reflects the lack of a standard language when asking about the presence of tinnitus, or how bothersome, distressing, or negatively impacting it is for the child. Estimates are also likely affected by a lack of awareness of tinnitus amongst children and parents...
May 6, 2024: Journal of the Association for Research in Otolaryngology: JARO
https://read.qxmd.com/read/38703251/predicting-social-competence-in-autistic-and-non-autistic-children-effects-of-prosody-and-the-amount-of-speech-input
#12
JOURNAL ARTICLE
Alyssa Janes, Elise McClay, Mandeep Gurm, Troy Q Boucher, H Henny Yeung, Grace Iarocci, Nichole E Scheerer
PURPOSE: Autistic individuals often face challenges perceiving and expressing emotions, potentially stemming from differences in speech prosody. Here we explore how autism diagnoses between groups, and measures of social competence within groups may be related to, first, children's speech characteristics (both prosodic features and amount of spontaneous speech), and second, to these two factors in mothers' speech to their children. METHODS: Autistic (n = 21) and non-autistic (n = 18) children, aged 7-12 years, participated in a Lego-building task with their mothers, while conversational speech was recorded...
May 4, 2024: Journal of Autism and Developmental Disorders
https://read.qxmd.com/read/38701550/rate-and-management-of-tympanic-membrane-perforations-in-children-with-down-syndrome-and-middle-ear-disorder
#13
JOURNAL ARTICLE
Nicole A Stoler, Brielle R Crovetti, Ana M Rosas Herrera, Mary Frances Musso, Yi-Chun Carol Liu
OBJECTIVE: To characterize the management and outcomes of observation versus surgical intervention of tympanic membrane (TM) perforations in children with Down syndrome (DS). In addition, to estimate the prevalence of TM perforations in children with DS. METHODS: Retrospective case review analysis of TM perforation rate in children with DS with history of tympanostomy tube (TT) insertion at a tertiary pediatric referral center. Patients were divided into observation or surgical intervention groups and then further evaluated for the type of intervention, the number of required procedures, and success rate of hearing improvement...
April 14, 2024: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/38697051/multiple-community-based-epidemiological-study-of-stuttering-among-3-year-old-children-in-japan
#14
JOURNAL ARTICLE
Naomi Sakai, Shoko Miyamoto, Yuki Hara, Yoshikazu Kikuchi, Hiroaki Kobayashi, Takaaki Takeyama, Jiro Udaka, Daisuke Sudo, Koichi Mori
INTRODUCTION: Many epidemiological studies of the disorder of stuttering have been conducted during the 20th century, continuing during the current one. Unfortunately, only a few were carried out in Japan. This study aimed at assessing (1) the incidence and prevalence of stuttering in 3-year-old children in multiple Japanese communities, and (2) factors associated with the onset of stuttering among these children. METHODS: A questionnaire aimed at screening for the presence of stuttering was employed for 2,055 children aged 3 years, who underwent a standard nationwide health checkup...
May 2, 2024: Folia Phoniatrica et Logopaedica
https://read.qxmd.com/read/38695436/towards-a-better-diagnosis-of-mouth-breathing-validity-and-reliability-of-a-protocol-for-assessing-the-awake-breathing-pattern-in-preschool-children
#15
JOURNAL ARTICLE
Morgane Warnier, Léonor Piron, Dominique Morsomme, Christelle Maillart
PURPOSE: The Awake Breathing Pattern Assessment (ABPA) is a prototypical clinical grid recently designed through an international consensus of Speech and Language Pathologists (SLPs) to categorize the awake and habitual breathing pattern during the orofacial myofunctional assessment. This cross-sectional study aims to explore the psychometric properties of the ABPA in a preschool population. METHODS: 133 children from 2;11 to 6 years old were assessed with the ABPA...
2024: CoDAS
https://read.qxmd.com/read/38694716/expressed-emotion-in-families-of-children-with-neurodevelopmental-disorders-a-mixed-method-approach
#16
JOURNAL ARTICLE
Krishna Priya Balachandran, Mohanraj Bhuvaneswari
BACKGROUND: Family interaction plays a pivotal role in the overall well-being of each member of a family unit. It is foreseeable that a family caring for an individual with a mental or physical health condition could experience negative family interactions for various reasons. Expressed emotion refers to the family environment based on the relatives' interaction with the individual diagnosed with a specific illness. Expressed emotion in the families of a person with any form of mental condition could pose potential psychological distress and burden to family members, notably the primary caregivers...
April 2024: Annals of Neurosciences
https://read.qxmd.com/read/38694353/syrian-child-carrying-multiple-pathogenic-variants-in-mboat7-and-mt-ts1-genes-a-case-report-on-neurodevelopmental-phenotypes-and-mitochondrial-inheritance
#17
Alyamama Kousa, Reem Ahmed, Pr Diana Alasmar
INTRODUCTION: The authors identify two patterns of inheritance in a Syrian child from consanguineous parents. The membrane-bound O-acyltranferase domain-containing7 (MBOAT7) gene encodes Lysophosphatidylinositol acyltranferase (LPIAT1), which is responsible for the neurodevelopment of the brain cortex. Patients with MBOAT7 variants exhibit pathogenic nervous manifestations such as global developmental delays affecting speech and motor function, intellectual disability (ID), poor coordination, and seizures, with or without MRI abnormalities...
May 2024: Annals of Medicine and Surgery
https://read.qxmd.com/read/38692192/normative-values-for-tests-of-central-auditory-processing-disorder-in-children-aged-from-6-to-12-years-old
#18
JOURNAL ARTICLE
Piotr H Skarzynski, Natalia Czajka, Rita Zdanowicz, Aleksandra Kolodziejak, Ewelina Bukato, Małgorzata Talarek, Zuzanna Pankowska, Henryk Skarzynski
INTRODUCTION: Central auditory processing disorders (CAPD) can significantly affect the daily functioning of a child, and the first step in determining whether rehabilitation procedures are required is a proper diagnosis. Different guidelines for making diagnoses have been published in the literature, and in various centers normative values for psychoacoustic tests of CAPD have been used internally. The material presented in this paper is based on more than 1000 children and is the largest collection so far published...
April 12, 2024: Journal of Communication Disorders
https://read.qxmd.com/read/38690644/are-minimally-verbal-autistic-children-s-modality-and-form-of-communication-associated-with-parent-responsivity
#19
JOURNAL ARTICLE
Chelsea La Valle, Lue Shen, Lindsay K Butler, Helen Tager-Flusberg
Prior work examined how minimally verbal (MV) children with autism used their gestural communication during social interactions. However, interactions are exchanges between social partners. Examining parent-child social interactions is critically important given the influence of parent responsivity on children's communicative development. Specifically, parent responses that are semantically contingent to the child's communication plays an important role in further shaping children's language learning. This study examines whether MV autistic children's (N = 47; 48-95 months; 10 females) modality and form of communication are associated with parent responsivity during an in-home parent-child interaction (PCI)...
May 1, 2024: Autism Research: Official Journal of the International Society for Autism Research
https://read.qxmd.com/read/38689611/a-mhealth-application-for-the-training-of-caregivers-of-children-with-developmental-disorders-in-south-africa-rationale-and-initial-piloting
#20
JOURNAL ARTICLE
Gianluca De Leo, MaryAnn Romski, Marika King, Marco Renzi, Rose A Sevcik, Juan Bornman
BACKGROUND: Evidence-based mobile health (mHealth) interventions have been successful for an array of physical and mental health conditions. Children with developmental disorders (DD) often have secondary speech and language disorders. The lack of high-quality medical and educational services in low- and middle-income countries limits the opportunities for children with DD to succeed in life. South Africa currently offers limited access to education, social, and health services. METHODS: Twelve caregivers of twelve children with DD between the ages of 3 and 6 years who already received monthly early childhood therapy participated in this study...
2024: MHealth
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