First, we explore the performance of nonword repetition (NWR) in children with specific language impairment (SLI) and typically developing children (TD) in order to investigate the accuracy of NWR as a clinical marker for SLI in Swedish-speaking school-age children. Second, we examine the relationship between NWR, family aggregation, and parental level of education in children with SLI. A sample of 61 children with SLI, and 86 children with TD, aged 8–12 years, were administered an NWR test. Family aggregation, measured as the prevalence of language and/or literacy problems (LLP) in parents of the children with SLI, was based on family history interviews. The sensitivity and specificity of nonword repetition was analyzed in a binary logistic regression, cut-off values were established with ROC curves, and positive and negative likelihood ratios reported. Results from the present study show that NWR distinguishes well between Swedish-speaking school-children with and without SLI. We found 90.2% sensitivity and 97.7% specificity at a cut-off level of −2 standard deviations for binary scoring of nonwords. Differences between the SLI and TD groups showed large effect sizes for the two scoring measures binary (d = 2.11) and percent correct consonants (PCC) (d = 1.79). The children with SLI were split into two subgroups: those with no parents affected with LLP (n = 12), and those with one or both parents affected (n = 49). The subgroup consisting of affected parents had a significantly lower score on NWR binary (p = .037), and there was a great difference between the subgroups (d = 0.7). When compared to the TD group, the difference from the subgroup with affected parents was almost one standard deviation larger (d = 2.47) than the difference from the TD to the subgroup consisting of non-affected parents (d = 1.57). Our study calls for further exploration of the complex interaction between family aggregation, language input, and phenotypes of SLI.

Developmental language disorder (DLD) is a common neurodevelopmental disorder with largely unknown etiology. Rare copy number variants (CNVs) have been implicated in the genetic architecture of other neurodevelopmental disorders (NDDs), which have led to clinical genetic testing recommendations for these disorders; however, the evidence is still lacking for DLD. We analyzed rare and de novo CNVs in 58 probands with severe DLD, their 159 family members and 76 Swedish typically developing children using high-resolution microarray. DLD probands had larger rare CNVs as measured by total length (P = .05), and average length (P = .04). In addition, the rate of rare CNVs overlapping coding genes was increased (P = .03 and P = .01) and in average more genes were affected (P = .006 and P = .03) in the probands and their siblings, respectively. De novo CNVs were found in 4.8% DLD probands (2/42) and 2.4% (1/42) siblings. Clinically significant CNVs or chromosomal anomalies were found in 6.9% (4/58) of the probands of which 2 carried 16p11.2 deletions. We provide further evidence that rare CNVs contribute to the etiology of DLD in loci that overlap with other NDDs. Based on our results and earlier literature, families with DLD should be offered molecular genetic testing as a routine in their clinical follow-up.

The aim was to study a broader phenotype of languagerelated diagnoses and problems in three generations of relatives of children with specific language impairment (SLI). Our study is based on a family history interview of the parents of 59 children with SLI and of 100 matched control children, exploring the prevalence of problems related to language, reading, attention, school achievement and social communication as well as diagnoses such as attention-deficit hyperactivity disorder (ADHD), autism, Asperger syndrome, dyslexia, mental retardation, cleft palate and stuttering. The results show a spectrum of language-related problems in families of SLI children. In all three generations of SLI relatives, we found significantly higher prevalence rates of language, literacy and social communication problems. The risk of one or both parents having language-related diagnoses or problems was approximately six times higher for the children with SLI (85%) than for the control children (13%) (odds ratio = 37.2). We did not find a significantly higher prevalence of the diagnoses ADHD, autism or Asperger syndrome in the relatives of the children with SLI. However, significantly more parents of the children with SLI had problems with attention/hyperactivity when compared with the parents of controls. Our findings suggest common underlying mechanisms for problems with language, literacy and social communication, and possibly also for attention/hyperactivity symptoms.Keywords: ADHD, attention, autism spectrum disorders, dyslexia, heredity, prevalence rates, reading, SLI, social communication, Swedish population Children with specific language impairment (SLI) have deficient language development, without general cognitive delays, physical disabilities, neurological problems or hearing impairment that can explain their difficulties. SLI is a developmental disorder varying in both severity and profile, characterized by deficits in aspects of language comprehension, production and function. The prevalence is estimated to 6-7% (Law et al. 2000;Tomblin et al. 1997), with a male to female ratio ranging from 2:1 to 3:1 (Bishop 1997; p. 38). SLI is often accompanied with a lifelong problem status (Leonard 2000).Twin studies have reported high heritability for SLI (DeThorne et al. 2006;Tomblin & Buckwalter 1998), indicating a strong genetic influence. Studies on family aggregation have shown a higher prevalence of language impairment in relatives of SLI probands than in controls (Stromswold 1998), irrespective of the method of data collection, e.g. family history report or direct testing. In family history reports, questionnaires have mostly been used and only a handful of studies have used interviews as a method of data collection (Conti-Ramsden et al. 2006). The reported prevalence rates of language problems in parents and siblings of SLI probands are approximately 20-40%, varying with the type of problem, the severity of SLI in the probands and the method of data collection (Barry et al. 2007;Conti-Ramsden et al. 2006;Stromswold 1998)....

Children with Down syndrome (DS) using intensive computer-based phonics (GraphoGame, GG) were studied. The children’s independence and improvement in phonological processing, letter knowledge, word decoding, and reading strategies were investigated. Seventeen children (5–16 years) with DS participated in a crossover design through 8 weeks (one period), with three test sessions separated by 4 weeks. Children were randomly assigned to GG intervention or regular schooling (RS). All children completed one period and eight children completed two periods. A majority gradually became independent in managing GG. At the group level, very little benefit was found from working with GG. At the individual level, several children with mild to severe intellectual disabilities showed increased decoding of trained words. After one period of GG and RS, an increase in alphabetically decoded words was found. The finding suggests that when individual challenges are considered, computer-based phonics may be beneficial for children with DS in their educational setting.