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Aim: The epidemiology of preschool speech sound disorder is poorly understood. Our aims were to determine: the prevalence of idiopathic speech sound disorder; the comorbidity of speech sound disorder with language and pre-literacy difficulties; and the factors contributing to speech outcome at 4 years., Method: One thousand four hundred and ninety-four participants from an Australian longitudinal cohort completed speech, language, and pre-literacy assessments at 4 years. Prevalence of speech sound disorder (SSD) was defined by standard score performance of ≤79 on a speech assessment. Logistic regression examined predictors of SSD within four domains: child and family; parent-reported speech; cognitive-linguistic; and parent-reported motor skills., Results: At 4 years the prevalence of speech disorder in an Australian cohort was 3.4%. Comorbidity with SSD was 40.8% for language disorder and 20.8% for poor pre-literacy skills. Sex, maternal vocabulary, socio-economic status, and family history of speech and language difficulties predicted SSD, as did 2-year speech, language, and motor skills. Together these variables provided good discrimination of SSD (area under the curve=0.78)., Interpretation: This is the first epidemiological study to demonstrate prevalence of SSD at 4 years of age that was consistent with previous clinical studies. Early detection of SSD at 4 years should focus on family variables and speech, language, and motor skills measured at 2 years., (© 2014 Mac Keith Press.)

Aim: Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia., Method: Genome-wide single nucleotide polymorphism genotyping was performed in three sample sets: a clinical cohort of individuals with speech and language deficits (87 probands: 61 males, 26 females; age range 4 to 23 years), a replication cohort of individuals with SLI, from both clinical and epidemiological samples (209 probands: 139 males, 70 females; age range 4 to 17 years), and a set of individuals with dyslexia (314 probands: 224 males, 90 females; age range 7 to 18 years)., Results: In the clinical language-impaired cohort, three abnormal karyotypic results were identified in probands (proband yield 3.4%). In the SLI replication cohort, six abnormalities were identified providing a consistent proband yield (2.9%). In the sample of individuals with dyslexia, two sex chromosome aneuploidies were found giving a lower proband yield of 0.6%. In total, two XYY, four XXY (Klinefelter syndrome), three XXX, one XO (Turner syndrome), and one unresolved karyotype were identified., Interpretation: The frequency of sex chromosome aneuploidies within each of the three cohorts was increased over the expected population frequency (approximately 0.25%) suggesting that genetic testing may prove worthwhile for individuals with language and literacy problems and normal non-verbal IQ. Early detection of these aneuploidies can provide information and direct the appropriate management for individuals., (© 2013 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.)

Aim: Children born in low- and mid-income countries are at a high risk of developing disabilities, yet estimates of population-based prevalence are sparse. Our aim was to determine the prevalence of early childhood (0-5 year) disability in Sind, a rural area of Pakistan., Method: We conducted a cross-sectional household survey in a population of 25,196 households. The Ten Questions screen and the Signs of Disability in Newborn and Infants screen were used., Results: The disability prevalence in a population of 176,364 individuals was 5.5 out of 1000 in children under 2 years and 5.4 out of 1000 in children aged 2-5 years. Fifty-six per cent were males, and 56% had the disability recognized from birth or soon after. The mortality rate of children aged 0-5 years in the area was estimated as 30 out of 1000 live births. Cerebral palsy was the most common disability identified. The Ten Questions screen had better interrater agreement than the Signs of Disability in Newborn and Infants screen., Interpretation: This is the largest reported household screening survey for early childhood disability at a population level from rural Pakistan. The comparatively low prevalence may be due to the younger age studied and high early childhood mortality. Our data highlight the importance of prospective surveillance at a population level and the need for preventive and support services., (© The Authors. Developmental Medicine & Child Neurology © 2013 Mac Keith Press.)

Aim: The aim of this study was to describe speech, expressive language, and verbal cognition of children with cerebral palsy (CP)., Method: A population study included 152 Icelandic children with congenital CP (74 males, 78 females; mean age 5y 5mo, range 4y-6y 6mo). Children who spoke in sentences, phrases, or one-word utterances were categorized as verbal. Speech was classified as normal, mild dysarthria, or severe dysarthria. Cognition was reported as IQ (Wechsler Preschool and Primary Scale of Intelligence - Revised) or developmental quotient (DQ)., Results: Most children (81%) had spastic CP and bilateral symptoms (76%); 74 (49%) were at Gross Motor Function Classification System (GMFCS) level I, 27% at levels II and III, and 24% at levels IV and V (p<0.001). One hundred and twenty-eight children (84%) communicated verbally whereas 24 were nonverbal. Nonverbal status and severe dysarthria were associated with greater motor impairment (GMFCS; p<0.001). Twenty-five children (16%) had severe dysarthria. Most (88%) of the nonverbal children had multiple disabilities compared with 18% of the verbal group (p<0.001). Median (interquartile range) verbal IQ was 93 (73-104) and performance IQ 77 (61-94; p<0.001). Sixty-eight children (45%) had normal verbal cognition and almost a quarter of the children with severe dysarthria had a full-scale IQ/DQ of 70., Interpretation: Most children with CP express sentences and almost half of them have normal verbal IQ. Nonverbal status frequently indicates multiple impairments whereas severe dysarthria may be associated with normal cognition., (© The Authors. Journal compilation © Mac Keith Press 2010.)

This article reviews the evidence for computer-based auditory training (CBAT) in children with language, reading, and related learning difficulties, and evaluates the extent it can benefit children with auditory processing disorder (APD). Searches were confined to studies published between 2000 and 2008, and they are rated according to the level of evidence hierarchy proposed by the American Speech-Language Hearing Association (ASHA) in 2004. We identified 16 studies of two commercially available CBAT programs (13 studies of Fast ForWord (FFW) and three studies of Earobics) and five further outcome studies of other non-speech and simple speech sounds training, available for children with language, learning, and reading difficulties. The results suggest that, apart from the phonological awareness skills, the FFW and Earobics programs seem to have little effect on the language, spelling, and reading skills of children. Non-speech and simple speech sounds training may be effective in improving children's reading skills, but only if it is delivered by an audio-visual method. There is some initial evidence to suggest that CBAT may be of benefit for children with APD. Further research is necessary, however, to substantiate these preliminary findings.

The aim of this study was to investigate the language development of 20 children who had been exposed to thiamine (vitamin B(1)) deficiency in infancy due to feeding with soy-based formula that was accidentally deficient of thiamine. In this case-control study, 20 children (12 males, eight females; mean age 31.8mo [SD 4.1], range 24-39mo) who were fed thiamine-deficient formula in infancy were compared with 20 children (12 males, eight females; mean age 32.2mo [SD 3.9], range 25-39mo) fed with other milk sources and matched for age, sex, and maternal education. Receptive and expressive language development was assessed with the Preschool Language Scale, 3rd edition. Other assessments included mental development (Bayley Scales of Infant Development, 2nd edition), evaluation for autistic spectrum disorders, and neurological examination. Motor development was compared by age at independent walking. The study and control groups differed significantly in the expressive communication (p<0.001) and auditory comprehension language subscales (p<0.001), the Mental Developmental Index score (p<0.001), and age at independent walking (p=0.001). A significant correlation was found between the receptive language score and age at independent walking, i.e. poorer language associated with later walking (r=-0.601, p=0.005). The conclusion was that thiamine deficiency in infancy could affect language development in childhood.

The aim of this study was to evaluate if a diagnostic work-up should be recommended for 2-year-old children with developmental language delay (LD), or if the widely chosen 'wait and see' strategy is adequate. Children with LD were identified in paediatric practices during routine developmental check-ups using a German parent-report screening questionnaire (adapted from the MacArthur Communicative Development Inventories). A standardized German instrument and the Netherlands version of Bayley Scales of Infant Development (2nd ed.) were used to assess language ability and nonverbal cognitive development respectively in 100 children with LD (65 males, 35 females; mean age 24.7 mo [SD 0.9]) and a control group of 53 children with normal language development (33 males, 20 females; mean age 24.6 mo [SD 0.8]). Neurological and audiometric testing were also performed. Sixty-one per cent of the LD group had specific expressive LD and 17% specific receptive-expressive LD. In 22%, LD was associated with other neurodevelopmental problems, 6% showed significant deficits in nonverbal cognitive abilities, and in 12%, nonverbal cognitive abilities were borderline. Four per cent fulfilled the criteria of childhood autism. LD at 2 years proved to represent a sensitive marker for different developmental problems. Adequate early intervention requires a clear distinction between specific expressive or receptive-expressive LD and LD associated with other neurodevelopmental problems. Though catch-up development is to be expected in a substantial proportion of 'late talkers', our data demonstrate that a general 'wait and see' approach is not justified in young children with LD. A proposal for a rational diagnostic work-up is presented.

The purpose of the study was to determine the prevalence of 'soft' motor deficits in school-aged children with either developmental language disorder (DLD), autism (with high IQ [HiAD] or low IQ [LoAD]), or low IQ without autism (LoIQ), and to evaluate the utility of a refined neurological examination to discriminate between these groups. A total of 242 children (74% male), aged 7 or 9 years, were evaluated as part of a longitudinal, multi-institutional study, with a standardized neurological examination that included Denckla's Physical and Neurological Examination for Soft Signs. Most of the scores separated children into two groups defined by nonverbal IQ, with the DLD and HiAD groups performing better than the LoAD and LoIQ groups. Exceptions included motor impersistence and stereotypies, which were more likely in the autistic groups. The neurologists' summary clinical impressions indicated better sensory/motor skills, oromotor skills, and praxis in the HiAD than in the DLD children. Inability/unwillingness to perform tasks was much more frequent in LoAD than LoIQ children.

Twenty children (11 females; age range 8y 2mo to 14y 7mo, mean 10y 6mo, SD 1y 8mo) with electroclinically typical rolandic epilepsy (RE), were investigated to demonstrate possible occurrence of abnormal oromotor functions and oral sensibility, linguistic problems, and impaired auditory discrimination. Twelve children were treated with an antiepileptic drug (carbamazepine, valproate, or sulthiame). They were compared with an age- and sex-matched control group of 24 children (14 females; age range 8y 2mo to 14y 5mo, mean 11y, SD 1y 8mo). The test battery included tests for facial expressions, lip and tongue movements, repeated syllables, and articulation using nonsense and tongue-twisting words. Sensibility on tongue and lips was tested with two-point discrimination. As language tests, Rapid Confrontation Naming, orthographic, and phonologic decoding tests were used. A dichotic listening test was performed in 13 children with RE and in 14 controls. Compared to control children, those with RE had significantly greater problems concerning tongue movements (p < 0.05) and articulation (nonsense words and tongue-twisting words; p < 0.01), and worse performance on dichotic listening (p < 0.05). Oro-lingual sensibility and results of language tests did not differ between those with RE and control children. The results indicate that children with RE have distinct but mild problems with oromotor performance and auditory discrimination.

This study investigated the occurrence, nature, and severity of speech, language, and cognitive impairment in 76 children (61 males, 15 females) with isolated sagittal synostosis (ISS) aged 9 months to 15 years 7 months. There was no increased prevalence of global cognitive impairment in the group but there was a high prevalence rate of speech and/or language impairment with 28 (37%) displaying impairment of whom 20 (71%) had moderate or severe impairments that fulfilled the criteria for specific impairments. Prevalence rates were only increased for children over two years of age. Expressive language impairment occurred most frequently. Raised intracranial pressure, peri-neonatal risk factors, otitis media, or being operated were not associated with impairment. Surgery at a later age and a family history of speech and language impairment were both associated with impairments but numbers were small. The findings suggest that children with ISS are at an increased risk of developing speech and language impairment.

Concordance rates were compared for 63 monozygotic (MZ) and 27 dizygotic (DZ) same-sex twin pairs, aged seven years and over, selected because at least one twin met diagnostic criteria for specific speech or language impairment. There was significant heritability for developmental speech and language disorder, defined according to DSM-II-R criteria. When the definition of the phenotype was broadened to include those with a past history of disorder and those with a less pronounced discrepancy between verbal and non-verbal ability, concordance for MZ twins was close to 100 per cent, and that for DZ twins approximately 50 per cent. There was also close similarity between concordant twins for type of disorder. There is good evidence that genetic factors play a role in the aetiology of speech and language impairment; twin data may help us arrive at a clearer conception of the phenotype as well as quantifying the extent of the genetic contribution.