Intensive computer-based phonics training in the educational setting of children with Down syndrome: An explorative study.

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.

Enrichment of rare copy number variation in children with developmental language disorder.

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.

Family history interview of a broad phenotype in specific language impairment and matched controls.

The aim was to study a broader phenotype of language-related 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.