Motor Milestones: Sensory Motor Trends of Young Children with Classic Galactosemia.

Speech problems affect about 66% of children with classic galactosemia (CG), but little is known about early motor and sensory motor development in this at-risk population (Rubio-Gozalbo et al., 2019). Research has been focused on speech and language development leaving a paucity of data on motor and sensory differences.

Joint exome and metabolome analysis in individuals with dyslexia: Evidence for associated dysregulations of olfactory perception and autoimmune functions.

Dyslexia is a learning disability that negatively affects reading, writing, and spelling development at the word level in 5%-9% of children. The phenotype is variable and complex, involving several potential cognitive and physical concomitants such as sensory dysregulation and immunodeficiencies. The biological pathogenesis is not well-understood.

Relationships Among Motor, First, and Second Language Skills Among Bilingual Children With Language Disorders.

Purpose: The purpose of this study was to determine the significance and directions of the relationships among oral and manual fine motor skills and language abilities among Spanish-English bilingual children. If such relationships exist, this would support a shared biological influence on motor and language development.

Method: Participants included 56 bilingual children, 24 of whom met criteria for developmental language disorder (DLD), recruited based on teacher concern for language and/or reading comprehension abilities.

Virtual Post-Intervention Speech and Language Assessment of Toddler and Preschool Participants in Babble Boot Camp.

Purpose: Babble Boot Camp (BBC) is a parent-implemented telepractice intervention for infants at risk for speech and language disorders. BBC uses a teach-model-coach-review approach, delivered through weekly 15-min virtual meetings with a speech-language pathologist. We discuss accommodations needed for successful virtual follow-up test administration and preliminary assessment outcomes for children with classic galactosemia (CG) and controls at age 2.

Precision Medicine as a New Frontier in Speech-Language Pathology: How Applying Insights From Behavior Genomics Can Improve Outcomes in Communication Disorders.

Purpose: Precision medicine is an emerging intervention paradigm that leverages knowledge of risk factors such as genotypes, lifestyle, and environment toward proactive and personalized interventions. Regarding genetic risk factors, examples of interventions informed by the field of medical genomics are pharmacological interventions tailored to an individual's genotype and anticipatory guidance for children whose hearing impairment is predicted to be progressive. Here, we show how principles of precision medicine and insights from behavior genomics have relevance for novel management strategies of behaviorally expressed disorders, especially disorders of spoken language.

A data-fusion approach to identifying developmental dyslexia from multi-omics datasets.

This exploratory study tested and validated the use of data fusion and machine learning techniques to probe high-throughput omics and clinical data with a goal of exploring the etiology of developmental dyslexia. Developmental dyslexia is the leading learning disability in school aged children affecting roughly 5-10% of the US population. The complex biological and neurological phenotype of this life altering disability complicates its diagnosis.

A case with cardiac, skeletal, speech, and motor traits narrows the subtelomeric 19p13.3 microdeletion region to 46 kb.

Subtelomeric 19p13.3 deletions have been associated with diverse anatomical and developmental phenotypes. A recent study of eight patients with subtelomeric interstitial 19p13.

Feasibility of a Proactive Parent-Implemented Communication Intervention Delivered via Telepractice for Children With Classic Galactosemia.

Purpose: This study evaluated the feasibility of Babble Boot Camp (BBC) for use with infants with classic galactosemia (CG) starting at less than 6 months of age. BBC is a parent-implemented intervention delivered by speech-language pathologists (SLPs) entirely via telepractice with the potential to increase access to early preventative interventions. We evaluated BBC feasibility based on acceptability, implementation, and practicality.

Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices.

BCL11A is implicated in BCL11A-Related Intellectual Development Disorder (BCL11A-IDD). Previously reported cases had various types of BCL11A variants (copy-number variations [CNVs], singlenucleotide variants [SNVs]). Phenotypes included global, cognitive, and motor delays, autism spectrum disorder (ASD), craniofacial dysmorphology, and speech and language delays described generally, with only two reports specifying childhood apraxia of speech (CAS).

A New American University Model for Training the Future MCH Workforce Through a Translational Research Team.

Objectives: To describe the process of developing and implementing experiential learning through translational research teams that engage diverse undergraduate and graduate students.

Methods: After a college redesign, translational research teams were developed to foster multidisciplinary research and better integrate students with faculty research, community, and clinical activities. Three primary approaches were used to engage undergraduate and graduate students in the maternal and child health translational research team (MCH TrT).

Toward Preventing Speech and Language Disorders of Known Genetic Origin: First Post-Intervention Results of Babble Boot Camp in Children With Classic Galactosemia.

Purpose Babble Boot Camp (BBC) is a package of proactive activities and routines designed to prevent speech and language disorders in infants at predictable risk. It is implemented via parent training and currently undergoing clinical trial in children with a newborn diagnosis of classic galactosemia (CG), a metabolic disease with high risk of speech and language disorders. The purpose of this study is to provide updates to a previous pilot study and to present the first set of post-intervention results.

Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit.

The PhenX Toolkit (https://www.phenxtoolkit.org/) is an online catalog of recommended measurement protocols to facilitate cross-study analyses for biomedical research.

A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation.

The 22q11.2 deletion syndrome (22q11.2 DS) is the most common deletion syndrome in humans.

Comparing global motor characteristics in children and adults with childhood apraxia of speech to a cerebellar stroke patient: evidence for the cerebellar hypothesis in a developmental motor speech disorder.

Individuals with childhood apraxia of speech (CAS) have motor deficits in systems beyond speech and also global deficits in sequential processing, consistent with cerebellar dysfunction. We investigated the cerebellar hypothesis of CAS in 18 children and adolescents with CAS, 11 typical controls, an adult with a probable CAS history, and an adult with a history of a cerebellar stroke. Compared to the controls, children and adolescents with CAS had the greatest difficulty with rapid syllable repetition when alternating between two different syllables types, less difficulty when switching among three different syllables, and no difficulty when repeating the same syllable.

Spelling errors reveal underlying sequential and spatial processing deficits in adults with dyslexia.

Recent studies showed that some adults with dyslexia have difficulty processing sequentially arranged information. In a companion study, this deficit manifested as low accuracy during a word pair comparison task involving same/different decisions when two words differed in their letter sequences. This sequential deficit was associated with left/right spatial letter confusion.

Effect of Resistance Training Under Normobaric Hypoxia on Physical Performance, Hematological Parameters, and Body Composition in Young and Older People.

Background: Resistance training (RT) under hypoxic conditions has been used to increase muscular performance under normoxic conditions in young people. However, the effects of RT and thus of RT under hypoxia (RTH) could also be valuable for parameters of physical capacity and body composition across the lifespan. Therefore, we compared the effects of low- to moderate-load RTH with matched designed RT on muscular strength capacity, cardiopulmonary capacity, hematological adaptation, and body composition in young and older people.

Sequential and spatial letter reversals in adults with dyslexia during a word comparison task: demystifying the "was saw" and "db" myths.

Whether sequential and spatial letter reversals characterize dyslexia in children has been unclear, largely due to developmental variability of these errors in children with and without dyslexia. Here we demonstrate both types of reversals for the first time in adults with dyslexia (n = 22) but not in control adults (n = 20). Participants evaluated 576 word pairs that consisted of two identical words or two words that differed subtly, by categorizing them as same or different.

Auditory gating in adults with dyslexia: An ERP account of diminished rapid neural adaptation.

Objective: A recent functional magnetic resonance imaging (fMRI) study of adults with dyslexia showed a general deficit in suppressing responses to various types of repetitive stimuli. This diminished neural adaptation may interfere with implicit learning and forming stable word representations. With fMRI, spatial but not temporal characteristics of the adaptation response could be identified.

Starting to Talk at Age 10 Years: Lessons About the Acquisition of English Speech Sounds in a Rare Case of Severe Congenital But Remediated Motor Disease of Genetic Origin.

Purpose This study was conducted to observe speech development in a child whose onset of oral communication was extremely delayed. In rare cases, children are born with physical limitations that temporarily interfere with speech sound production. Whether the development of speech sound production follows the same trajectory as that in typical children at younger ages is not well understood.

Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex Effects.

Recent studies of autism spectrum disorder (ASD) and childhood apraxia of speech (CAS) have resulted in conflicting conclusions regarding the comorbidity of these disorders on phenotypic grounds. In a nuclear family with two dually affected and one unaffected offspring, whole-exome sequences were evaluated for single nucleotide and indel variants and CNVs. The affected siblings but not the unaffected sibling share a rare deleterious compound heterozygous mutation in WWOX, implicated both in ASD and motor control.

Toward a paradigm shift from deficit-based to proactive speech and language treatment: Randomized pilot trial of the Babble Boot Camp in infants with classic galactosemia.

Speech and language therapy is typically initiated reactively after a child shows delays. Infants with classic galactosemia (CG), a metabolic disease with a known high risk for both speech and language disorders, hold the keys towards evaluating whether preventive treatment is effective when the risks are known at birth. We present pilot data from a randomized parallel trial of an innovative proactive speech and language intervention program, the Babble Boot Camp (BBC).

Dose-response relationship of intermittent normobaric hypoxia to stimulate erythropoietin in the context of health promotion in young and old people.

Purpose: Erythropoietin (EPO) has multifactorial positive effects on health and can be increased by intermittent normobaric hypoxia (IH). Recommendations about the intensity and duration of IH to increase EPO exist, but only for young people. Therefore, the aim of the study was to investigate the dose-response relationship regarding the duration of hypoxia until an EPO expression and the amount of EPO expression in old vs.