Phonological coding, measured by the oral reading of nonwords, and orthographic coding, measured by the discrimination of words from homophonic nonwords (e.g., rane, rain), were compared for pairs of older children with reading disabilities (RD) and younger nondisabled readers matched on word recognition. Phonological coding was substantially lower for most children with RD, indicating a unique developmental deficit in phonological coding rather than an equal developmental lag across all component reading skills. Data from identical and fraternal twins indicated that the phonological coding deficit of the children with RD was highly heritable and accounted for most of the heritable variance in their word recognition deficits. The deficits of the twins with RD in segmental language skills (rhyming and phoneme segmentation) were related to the heritable variance in their phonological coding deficits. Orthographic coding was not significantly heritable, and it accounted for much of the environmental variance in word recognition deficits. Implications of the results for the remediation of reading disability are discussed.

Down syndrome (DS) is associated with abnormalities in multiple organ systems and a characteristic phenotype that includes numerous behavioral features. Language, however, is among the most impaired domains of functioning in DS and, perhaps, also the greatest barrier to independent meaningful inclusion in the community. In this article, we review what is known about the extent, nature, and correlates of the language and related problems of individuals with Down syndrome. In doing so, we focus largely on the syndrome-specific features of the language phenotype, although we also consider within-syndrome variation. The review focuses on the prelinguistic foundations of language and the major components of language (i.e., vocabulary, syntax, and pragmatics). We also consider two topics in the treatment and education of individuals with DS: prelinguistic communication intervention and the acquisition of literacy skills.

Increasingly individuals with intellectual and developmental disabilities, including Down syndrome, are being targeted for clinical trials. However, a challenge exists in effectively evaluating the outcomes of these new pharmacological interventions. Few empirically evaluated, psychometrically sound outcome measures appropriate for use in clinical trials with individuals with Down syndrome have been identified. To address this challenge, the NIH assembled leading clinicians and scientists to review existing measures and identify those that currently are appropriate for trials; those that may be appropriate after expansion of age range addition of easier items, and/or downward extension of psychometric norms; and areas where new measures need to be developed. This paper focuses on measures in the areas of cognition and behavior.

BackgroundPrevalence estimates of autism spectrum disorder (ASD) in Down syndrome (DS) are highly varied. This variation is partly due to the difficulty of screening for and diagnosing comorbid ASD in individuals with a syndrome that carries its own set of social communicative and behavioral difficulties that are not well documented. The aim of this study was to identify the typical range of social communicative impairments observed in children, adolescents, and young adults with DS who do not have comorbid ASD.MethodsWe examined patterns of scores from the five subscales of the Social Responsiveness Scale (SRS) in 46 individuals with DS (ages 10–21 years) without comorbid ASD relative to the published normative sample. We also explored the correlations between SRS symptomatology and age, nonverbal cognition, and receptive language.ResultsSRS scores were elevated (i.e., more ASD symptoms endorsed), with mean scores falling into the clinically significant range. Analysis by subscale revealed a specific pattern, with Autistic Mannerisms and Social Cognition scores significantly more elevated than Social Communication scores, which were significantly more elevated than Social Awareness and Social Motivation scores. Correlations between SRS scores and the other measures varied by subscale.ConclusionsGeneral elevated ASD symptomatology on the SRS indicates the need for developing population-based norms specific to DS. The pattern of scores across subscales should inform clinicians of the typical range of behaviors observed in DS so that individuals with atypical patterns of behavior can be more easily identified and considered for a full ASD evaluation.

Attentional control was investigated as a possible third component of reading comprehension, along with decoding and language comprehension, within the Simple View of reading (Gough & Tunmer RASE: Remedial and Special Education 7:6-10, 1986; Hoover & Gough Reading and Writing 2:127-160, 1990). Attentional control is the ability to suppress irrelevant prepotent responses and activate relevant responses. This ability may help coordinate decoding and language comprehension during reading. In an unselected sample of 67 eight-year-olds, attentional control contributed significant variance to reading comprehension after controlling for decoding and language comprehension. Further, attentional control was similar to language comprehension in the amount of unique variance accounted for. Five contrast measures were examined (performance IQ, print exposure, articulation speed, phonemic awareness, and verbal short-term memory), but none was as good a candidate for a third component of reading comprehension as attentional control.