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. Method We present a child who was wheelchair-bound and communicated nearly exclusively via augmentative and alternative communication devices due to severe congenital motor disease and generalized hypotonia. At age 10 years, her condition improved dramatically with medication after a mutation in a dopamine-related gene was discovered, and she switched entirely to oral communication. Observation of speech development was based on chart reviews, video recordings, and direct testing at age 15 years. Results At age 4 years, the participant's attempts at speech showed a small phoneme inventory consisting of early-acquired phonemes and large numbers of common phonological processes. Following the medical intervention at age 10 years, mastery of velars occurred after age 12 years and mastery of liquids was still incomplete at age 15 years. Conclusions Findings are consistent with general growth trends in speech sound acquisition that are independent of chronological age. Theoretical considerations regarding the role of motor control in the invariant order of speech sound acquisition are posited, specifically regarding articulatory building blocks. Clinical recommendations include interprofessional management of children with complex motor disease and referrals to genetics professionals in the care of such children.

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. In addition, one of the affected children carries a rare deleterious de novo mutation in the ASD candidate gene RIMS1. The two affected children but not their unaffected sibling inherited deleterious variants with relevance for ASD and/or CAS. WWOX, RIMS1, and several of the genes harboring the inherited variants are expressed in the brain during prenatal and early postnatal development. Results suggest compound heterozygosity as a cause of ASD and CAS, pleiotropic gene effects, and potentially additional, complex genetic effects.

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.

Background: 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).  Method: Five children with CG, otherwise healthy, participated in the study from approximately 2 to 24 months of age. One of these was randomly selected as control receiving conventional management, which typically starts at age 2-3 years. A pediatric speech-language pathologist met weekly via telepractice with the parents in the treatment cohort. Parents implemented the prespeech, speech, and language stimulation and expansion activities according to the intervention protocol. The control child was still too young for conventional treatment. Primary outcome measures were speech sound production complexity in babble and speech and expressive vocabulary size. Secondary outcome measures were vocalization rates and developmental milestones in communication, motor, and cognition. The trial is ongoing. Results:  All four treated children had higher speech sound skills in babble, three had higher speech sound skills in meaningful speech, two had higher expressive vocabularies, three had higher global developmental scores, and two had higher vocalization rates, compared to the control child with CG. Discussion: Given the high risk for speech and language delays in children with CG, finding on-schedule abilities in two or more of the treated children but not the untreated child is unexpected under random conditions. The trends toward beneficial effects of the BBC on speech sound production, expressive language, and communication milestones warrant appropriately powered larger clinical trials with full randomization. Trial registration: ClinicalTrials.gov NCT03838016 (12 th February 2019).

Sequential processing deficit as a shared persisting biomarker in dyslexia and childhood apraxia of speech.

The purpose of this study was to investigate the hypothesis that individuals with dyslexia and individuals with childhood apraxia of speech share an underlying persisting deficit in processing sequential information. Levels of impairment (sensory encoding, memory, retrieval, and motor planning/programming) were also investigated. Participants were 22 adults with dyslexia, 10 adults with a probable history of childhood apraxia of speech (phCAS), and 22 typical controls. All participants completed nonword repetition, multisyllabic real word repetition, and nonword decoding tasks. Using phonological process analysis, errors were classified as sequence or substitution errors. Adults with dyslexia and adults with phCAS showed evidence of persisting nonword repetition deficits. In all three tasks, the adults in the two disorder groups produced more errors of both classes than the controls, but disproportionally more sequencing than substitution errors during the nonword repetition task. During the real word repetition task, the phCAS produced the most sequencing errors, whereas during the nonword decoding task, the dyslexia group produced the most sequencing errors. Performance during multisyllabic motor speech tasks, relative to monosyllabic conditions, was correlated with the sequencing error component during nonword repetition. The results provide evidence for a shared persisting sequential processing deficit in the dyslexia and phCAS groups during linguistic and motor speech tasks. Evidence for impairments in sensory encoding, short-term memory, and motor planning/programming was found in both disorder groups. Future studies should investigate clinical applications regarding preventative and targeted interventions towards cross-modal treatment effects.

Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays.

Interstitial and terminal 6q25 deletions are associated with developmental delays, hypotonia, eye pathologies, craniofacial dysmorphologies, and structural brain anomalies. In most cases, speech and language deficits are not described in detail. We report on a case (Patient 1, age 7 years) with a de novo 6q25.3-qter deletion, 11.1 Mb long and encompassing 108 genes, and a case (Patient 2, age 5 years) with an inherited interstitial 6q25.3 deletion, located within Patient 1's deletion region and 403 kb long, the smallest 6q25 deletion reported to date. Both children have hypotonia, motor speech disorders, and expressive language delays. Patient 1's speech was characterized by childhood apraxia of speech (CAS) and dysarthria. Other findings include developmental delay, ataxic cerebral palsy, optic nerve dysplagia, and atypical brain morphologies regarding the corpus callosum and gyration patterns, a clinical profile that closely matches a previously reported case with a nearly identical deletion. Patient 2 had speech characterized by CAS and typical nonverbal processing abilities. His father, a carrier, had typical speech and language but showed difficulties with complex motor speech and hand motor tasks, similar to other adults with residual signs of CAS. The small deletion in this family contains the IGF2R-AIRN-SLC22A2-SLC22A3 gene cluster, which is associated with imprinting and maternal-specific expression of Igf2R, Slc22a2, and Slc22a3 in mice, whereas imprinting in humans is a polymorphic trait. The shared phenotypes in the two patients might be associated with the deletion of the gene cluster.