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Why do some children fail to acquire speech and language skills despite adequate environmental input and overtly normal neurological and anatomical development? It has been suspected for several decades, based on indirect evidence, that the human genome might hold some answers to this enigma. These suspicions have recently received dramatic confirmation with the discovery of specific genetic changes which appear sufficient to derail speech and language development. Indeed, researchers are already using information from genetic studies to aid early diagnosis and to shed light on the neural pathways that are perturbed in these inherited forms of speech and language disorder. Thus, we have entered an exciting era for dissecting the neural bases of human communication, one which takes genes and molecules as a starting point. In the current article I explain how this recent paradigm shift has occurred and describe the new vistas that have opened up. I demonstrate ways of bridging the gaps between molecules, neurons and the brain, which will provide a new understanding of the aetiology of speech and language impairments.

The idea of developmental dyspraxia has been discussed in the research literature for almost 100 years. However, there continues to be a lack of consensus regarding both the definition and description of this disorder. This paper presents a neuropsychologically based operational definition of developmental dyspraxia that emphasizes that developmental dyspraxia is a disorder of gesture. Research that has investigated the development of praxis is discussed. Further, different types of gestural disorders displayed by children and different mechanisms that underlie developmental dyspraxia are compared to and contrasted with adult acquired apraxia. The impact of perceptual-motor, language, and cognitive impairments on children's gestural development and the possible associations between these developmental disorders and developmental dyspraxia are also examined. Also, the relationship among limb, orofacial, and verbal dyspraxia is discussed. Finally, problems that exist in the neuropsychological assessment of developmental dyspraxia are discussed and recommendations concerning what should be included in such an assessment are presented.

Objective To describe specific language impairment in four children with velocardiofacial syndrome (VCFS). Design A descriptive, retrospective study of four cases. Setting University Hospital Groningen, tertiary clinical care. Patients Of 350 patients with cleft plate, 18 children were diagnosed with VCFS. Four children are described. Interventions In all children, cardiac and plastic surgery was carried out in the first year of life. Afterward, interventions consisted of hearing improvement, pharyngoplasty, and speech therapy. Main Outcome Inadequate and uncharacteristic development of articulation and expressive language in four children with VCFS were observed. They differed from the majority in two ways: their nonverbal IQ was in the normal range, and their language skills were below expectations for their IQ. Results Four of 18 patients with VCFS (22%) showed poor response to therapy and did not develop language in accordance with their normal learning abilities (nonverbal learning capacities and language comprehension). Persistent hypernasal resonance and severe articulation problems remained in all four children. In two children the expressive language profile was also not in agreement with the nonverbal profile: they produced only two- and three-word utterances at the age of 6.0 and 5.3 years. The other two children at the age of 6.8 and 6.4 years produced very long sentences, but they were unintelligible. Conclusions The speech and language impairment of the four children may be characterized as a phonological or verbal programming deficit syndrome and as such can be described as a specific language impairment in conjunction with VCFS.

Speech/language disorders are common in the fragile X syndrome. [Howard-Peebles, 1979: Am J Hom Genet 31:214-222; Renier et al., 1983: J Ment Defic Res 27:51-59; Sparks, 1984: Birth Defects and Speech-Language Disorders, pp. 39-43; Hanson et al., 1986: Am J Med Genet 23:195-206]. Verbal paraphasias have been considered a rare feature and word-finding difficulties have seldom been reported. Here we report on ten Brazilian patients who were evaluated for speech/language disturbances and found that word-finding difficulties were present in 50% of the cases, which is a slightly higher frequency than that of clear dyspraxia. We suggest, therefore, that word-finding difficulties and verbal dyspraxia can be a common feature within the spectrum of this syndrome. Additional speech findings are discussed.

The instrumental techniques of electropalatography and pneumotachography are used to examine details of tongue-palate contacts and VOT characteristics of three adult male subjects: two described as dysarthric and one as dyspraxic. A comparison is made between the subjects, and the results are compared with data from four normal speakers. The information is considered with reference to the neurological bases of these disorders of speech, and the advantages of an instrumental investigation over traditional auditory based assessments are exemplified. Some implications for therapy are also considered.