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Finding susceptibility genes for developmental disorders of speech: the long and winding road.

UNLABELLED: Finding susceptibility genes for complex disorders is the next major challenge facing genetics researchers. The purpose of this paper is to stimulate creative thinking about the gene-finding process for developmental speech disorders (DSDs), specifically disorders of articulation/phonology and stuttering. The paper will begin with a review of existing behavioral genetic studies of these phenotypes. This will be followed by a discussion of roadblocks that may impede the molecular study of DSDs, research that is in very early stages of development. As a third objective, the small number of molecular genetic studies of DSDs that have been published or presented will be described. The paper concludes with a discussion of research strategies that may maximize the success of molecular studies of speech phenotypes. It will be argued that progress will most likely be enhanced if theories about biological systems and processes can be used to narrow the search for candidate susceptibility genes. LEARNING OUTCOMES: The reader will be introduced to findings and conceptual issues that relate to the behavioral and molecular genetic investigation of DSDs. After completing this paper, readers should be able to (a) identify key epidemiological findings for the three speech phenotypes that were discussed (DAS, speech delay, and stuttering); (b) summarize the findings of the behavioral genetic studies of speech disorders that were presented; (c) identify four specific challenges that may impede future molecular genetic studies of these phenotypes; (d) describe the methodological sequence that led to the discovery of the FOXP2 gene; and (e) summarize the two research strategies that were presented to potentially reduce sample heterogeneity for future molecular genetics research.

Age of Onset↗
PubMed1988

Symbolization levels in communicative behaviors of children showing pervasive developmental disorders.

A total of 48 children with severe pervasive developmental disturbance were observed in their communicative behaviors across modalities of language, gesture, play, and drawing. As predicted, levels of symbolization in gesture, play, and drawing were significantly intercorrelated and most strongly correlated with the criterion variable of expressive language. Children who were echolalic showed levels of symbolization intermediate between those of mute children and those with nonecholalic language. The correlation between the expressive language measure and a standardized measure of receptive language for 22 testable children also was significant. The results are discussed in the context of earlier studies of symbol production in verbal samples of disturbed and nonhandicapped children.

Adolescent↗
PubMed2001

[Diagnostic imaging in the congenital and developmental disorders: before and after advancement of molecular genetics].

In this review, a general approach to the congenital and genetic disorders is presented. Differentiation between deformation and malformation is practically important to triage congenial or developmental abnormalities. The disease distribution along arterial supply or sclerotome is more suggestive of developmental or acquired disorder, either in utero or in early infancy. Newly developed genetic analysis of bone dysplasia is an important subject, and this review focuses on collagen abnormalities, systemic disorders associated with neoplasms and receptor disorders. Owing to the progress of molecular genetics and gene therapy, the approach to hereditary conditions will dramatically change. Although most of these diseases are relatively uncommon, the role of diagnostic radiologist may become more important for early institution of treatment planning and estimating prognosis.

Bone Diseases, Developmental↗
PubMed1989

Infantile anorexia nervosa: a developmental disorder or separation and individuation.

Infantile anorexia nervosa is an eating disorder that has its onset during the early developmental stage of separation and individuation between the ages of six months and three years. Infantile anorexia nervosa is characterized by food refusal and leads to failure to thrive. The infant refuses to eat in an attempt to achieve autonomy and control with regard to the mother, a maneuver that serves to involve the mother more deeply in the infant's eating behavior and to meet the infant's need for attention. Mother and infant become embroiled in a battle of wills over the infant's food intake. The infant's feeding is directed by his emotional needs instead of physiological sensations of hunger and satiety, and he fails to develop somatopsychological differentiation. The infant's temperament and maternal conflicts over control, autonomy, and dependency appear to contribute to this eating disorder. Treatment is aimed toward helping the parents understand and promote the developmental process of somatopsychological differentiation. Initially, a behavioral-cognitive approach is used; however, parents who struggle with unresolved issues around dependency and control require further psychotherapy.

Anorexia Nervosa↗