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Aim: To delineate the speech and language phenotype of a cohort of individuals with FOXP1‐related disorder. Method: We administered a standardized test battery to examine speech and oral motor function, receptive and expressive language, non‐verbal cognition, and adaptive behaviour. Clinical history and cognitive assessments were analysed together with speech and language findings. Results: Twenty‐nine patients (17 females, 12 males; mean age 9y 6mo; median age 8y [range 2y 7mo–33y]; SD 6y 5mo) with pathogenic FOXP1 variants (14 truncating, three missense, three splice site, one in‐frame deletion, eight cytogenic deletions; 28 out of 29 were de novo variants) were studied. All had atypical speech, with 21 being verbal and eight minimally verbal. All verbal patients had dysarthric and apraxic features, with phonological deficits in most (14 out of 16). Language scores were low overall. In the 21 individuals who carried truncating or splice site variants and small deletions, expressive abilities were relatively preserved compared with comprehension. Interpretation: FOXP1‐related disorder is characterized by a complex speech and language phenotype with prominent dysarthria, broader motor planning and programming deficits, and linguistic‐based phonological errors. Diagnosis of the speech phenotype associated with FOXP1‐related dysfunction will inform early targeted therapy. What this paper addsIndividuals with FOXP1‐related disorder have a complex speech and language phenotype.Dysarthria, which impairs intelligibility, is the dominant feature of the speech profile.No participants were receiving speech therapy for dysarthria, but were good candidates for therapyFeatures of speech apraxia occur alongside persistent phonological errors.Language abilities are low overall; however, expressive language is a relative strength. What this paper adds: Individuals with FOXP1‐related disorder have a complex speech and language phenotype.Dysarthria, which impairs intelligibility, is the dominant feature of the speech profile.No participants were receiving speech therapy for dysarthria, but were good candidates for therapyFeatures of speech apraxia occur alongside persistent phonological errors.Language abilities are low overall; however, expressive language is a relative strength. [ABSTRACT FROM AUTHOR]

Aim: To examine the frequency, characteristics, and factors associated with speech delay and disorder in a community sample of children with cerebral palsy (CP).Method: Participants were 84 children (37 females, 47 males; aged between 4y 11mo-6y 6mo) with CP identified through a population-based registry. Speech and oromotor function were systematically evaluated to provide a differential diagnosis of articulation, phonological, and motor speech disorders.Results: In total, 82% (69/84) of participants had delayed or disordered speech production, including minimally verbal presentations (n=20). Verbal participants (n=64) presented with dysarthria (78%), articulation delay or disorder (54%), phonological delay or disorder (43%), features of childhood apraxia of speech (CAS) (17%), or mixed presentations across these conditions. Speech intelligibility was poorest in those with dysarthria and features of CAS. Speech delay or disorder in verbal participants was associated with language impairment (p=0.002) and reduced health-related quality of life (p=0.04) (Fisher's exact test). Poorer speech accuracy (i.e. lower percentage consonants correct) correlated with greater impairments in both language (p<0.001) and oromotor function (p<0.001) (Spearman's test).Interpretation: The speech profile of children with CP is characterized by impairment at multiple levels of speech production (phonetic, cognitive-linguistic, neuromuscular execution, and high-level planning/programming), highlighting the importance of a personalized differential diagnosis informing targeted treatment. [ABSTRACT FROM AUTHOR]

Background: There is a lack of population‐based studies exploring the communicative behaviours of minimally verbal children with cerebral palsy (CP), with factors associated with superior and poorer communication outcomes unknown. This study aimed to examine the communication behaviours of minimally verbal children with CP recruited from a representative community sample and to identify factors associated with communication outcomes. Methods: Twenty minimally verbal children aged 5–6 years, recruited through the Victorian Cerebral Palsy Register, completed the Communication and Symbolic Behaviour Scales–Developmental Profile (CSBS‐DP). Linear regressions examined child‐related and environmental factors associated with communication outcomes. Results: CSBS‐DP total raw scores ranged from 0 to 113. Strengths were the use of conventional gestures and understanding of language. Challenges were noted in using sequential action schemes during play. Communication typically served to regulate the behaviour of others. All participants demonstrated reduced functional communication (Communication Function Classification System levels III–IV). In the multivariable regression model adjusted for cognition, poorer communication skills were associated with Manual Ability Classification System levels IV–V (P = 0.004). Conclusions: Although some children with CP who are minimally verbal use a variety of communication functions, significant functional limitations may be apparent. Severe upper limb impairment may provide an early indication of greater communication difficulties. [ABSTRACT FROM AUTHOR]

Aim: To compare language, speech, and voice of children born preterm and at term, and determine relevant predictors of outcome.Method: Three hundred infants (150 males, 150 females; 149 born at <30wks' gestation, 151 term-born) were prospectively recruited at birth from the Royal Women's Hospital. We administered the Preschool Language Scales, Fifth Edition, Diagnostic Evaluation of Articulation and Phonology, Grade Roughness Breathiness Asthenia Strain Scale, and Pediatric Voice Handicap Index at 3 years, and compared groups. We examined hypothesized predictors in children born preterm: gestational age at birth, birthweight, sex, chronic lung disease, high social risk, multilingualism, neurodevelopmental diagnosis, and oromotor feeding.Results: Children born preterm had poorer language than children born at term (coefficient -5.43). Speech and voice were similar between groups (coefficients -0.70 to 1.63). Chronic lung disease predicted voice (coefficient 6.05); male sex (coefficients 4.54-6.18), high social risk (coefficient -6.02 to -9.30), and neurodevelopmental diagnosis (coefficients -16.42 to -20.61) predicted language.Interpretation: Children born before 30 weeks' gestation had poorer language than children born at term. Children born preterm with neurodevelopmental disabilities or high social risk experience poorer language outcomes, and would benefit from enrichment of their language environment.What This Paper Adds: Speech and voice outcomes were similar between children born preterm and at term. Male sex, high social risk, and neurodevelopmental diagnosis predicted language outcomes. [ABSTRACT FROM AUTHOR]

Aim: Over the past two decades, the youth mental health field has expanded and advanced considerably. Yet, mental disorders continue to disproportionately affect adolescents and young adults. Their prevalence and associated morbidity and mortality in young people have not substantially reduced, with high levels of unmet need and poor access to evidence‐based treatments even in high‐income countries. Despite the potential return on investment, youth mental disorders receive insufficient funding. Motivated by these continual disparities, we propose a strategic agenda for youth mental health research. Method: Youth mental health experts and funders convened to develop youth mental health research priorities, via thematic roundtable discussions, that address critical evidence‐based gaps. Results: Twenty‐one global youth mental health research priorities were developed, including population health, neuroscience, clinical staging, novel interventions, technology, socio‐cultural factors, service delivery, translation and implementation. Conclusions: These priorities will focus attention on, and provide a basis for, a systematic and collaborative strategy to globally improve youth mental health outcomes. [ABSTRACT FROM AUTHOR]

Aim: To examine the frequency, range, and features of language impairment in a community sample of children with cerebral palsy (CP) aged 5 to 6 years.Method: Children with CP born between 2005 and 2007 were identified through the Victorian Cerebral Palsy Register. Eighty-four participants were recruited, representing 48% of the contacted families. The recruited sample was representative of non-participants. Participants completed standardized measures of receptive and expressive language, and non-verbal cognition.Results: Language impairment was identified in 61% (51/84) of participants. Twenty-four per cent (20/84) were non-verbal. Co-occurring receptive and expressive language impairment was common (37/84, 44%). Isolated receptive (6/84, 7%) and expressive (4/84, 5%) impairments occurred relatively infrequently. At a group level, verbal and non-verbal participants demonstrated deficits across language subdomains (i.e. semantics, syntax, morphology), rather than in single domains. Cognitive impairment and Gross Motor Function Classification System levels IV and V were associated with higher rates of language impairment (odds ratio [OR] 15.2, 95% confidence interval [CI] 3.2-71.8 and OR 8.5, 95% CI 1.8-40.3 respectively). Only cognition was independently associated with language impairment when both of these factors were considered within a multivariable model.Interpretation: Language impairment was common in 5-year-old and 6-year-old children with CP, affecting three out of five children. Participants were impaired across linguistic subdomains indicating a generalized language deficit. Findings suggest most children would benefit from a clinical language assessment. To target services effectively, subgroups of individuals with CP at greatest risk for language impairment need to be identified. [ABSTRACT FROM AUTHOR]

Speech and language deficits are commonly associated with Kabuki syndrome. Yet little is known regarding the specific symptomatology of these disorders, preventing use of targeted treatment programs. Here we detail speech and language in 16 individuals with Kabuki syndrome (thirteen with KMT2D mutations, one with a KDM6A mutation, and two mutation-negative cases), aged 4-21 years. The most striking speech deficit was dysarthria, characterised by imprecise consonants, harsh vocal quality, hypernasality, reduced rate and stress, and distorted pitch. Oromotor functioning was also impaired. Delayed, rather than disordered, articulation and phonology was common. Both receptive and expressive language abilities were reduced in the majority and deficits were noted across all language sub-domains (i.e., semantics, syntax, morphology, and pragmatics) with no clear differentiation or specific language profile. Individuals with Kabuki syndrome present with a heterogenous pattern of oromotor, speech, and language deficits. This variability fits with the multisystem nature of the disorder, which may encompass neurological, orofacial structural, hearing, and cognitive deficits, any or all of which may contribute to speech or language impairment. Our results suggest that all individuals with Kabuki syndrome have some level of communication deficit, warranting speech pathology involvement in all cases. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Background: Critical illness polyneuropathy and myopathy (CIPNM) is a frequent neurological manifestation in patients with acute respiratory distress syndrome (ARDS) from coronavirus disease 2019 (COVID-19) infection. CIPNM diagnosis is usually limited to clinical evaluation. We compared patients with ARDS from COVID-19 and other aetiologies, in whom a neurophysiological evaluation for the detection of CIPNM was performed. The aim was to determine if there were any differences between these two groups in frequency of CINPM and outcome at discharge from the intensive care unit (ICU)., Materials and Methods: This was a single-centre retrospective study performed on mechanically ventilated patients consecutively admitted (January 2016-June 2020) to the ICU of Careggi Hospital, Florence, Italy, with ARDS of different aetiologies. Neurophysiological evaluation was performed on patients with stable ventilation parameters, but marked widespread hyposthenia (Medical Research Council score <48). Creatine phosphokinase (CPK), lactic dehydrogenase (LDH) and mean morning glycaemic values were collected., Results: From a total of 148 patients, 23 with COVID-19 infection and 21 with ARDS due to other aetiologies, underwent electroneurography/electromyography (ENG/EMG) recording. Incidence of CIPNM was similar in the two groups, 65% (15 of 23) in COVID-19 patients and 71% (15 of 21) in patients affected by ARDS of other aetiologies. At ICU discharge, subjects with CIPNM more frequently required ventilatory support, regardless the aetiology of ARDS., Conclusion: ENG/EMG represents a useful tool in the identification of the neuromuscular causes underlying ventilator wean failure and patient stratification. A high incidence of CIPNM, with a similar percentage, has been observed in ARDS patients of all aetiologies., (© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)