Configural and local processing of faces in children with Williams syndrome

Three experiments investigated face processing in children with Williams syndrome (WS). In Experiment 1, the ability to discriminate different aspects of faces was compared between WS subjects and a group of children individually matched for chronological age (CA-matches) and another group matched for mental age (MA-matches). In Experiments 2 and 3, the ability to process the local and configural aspects of geometrical patterns and faces was assessed within the same groups of subjects. The results indicated that the WSs' overall performance on face recognition was below that of the CA-matches, but similar to that of the MA-matches. This study revealed in addition that the CA- and MA-matches showed a bias toward a configural mode of face and geometrical shape processing, whereas children with WS did not show any bias. These findings suggest that face processing undergoes an abnormal developmental course in WS.     

Follow-up survey of pregnancies with diagnoses of chromosomal abnormality

A small clinical survey was undertaken at East Carolina University School of Medicine to examine the factors which influenced the decisions of five families to continue pregnancies after a chromosomal abnormality was detected. Little has been published concerning the psychosocial effects after continuing pregnancies in which the fetus was diagnosed with a chromosome abnormality by amniocentesis. In order to identify the factors that influenced their decisions, an interview with each couple was undertaken using a 25-part questionnaire. This paper addresses the method of interviewing, case material, and background concerning each couple and the summary of the results.     

FUNCTIONAL ANALYSIS AND INTERVENTION FOR BREATH HOLDING

We conducted a functional analysis of breath-holding episodes in a 7-year-old girl with severe mental retardation and Cornelia-de-Lange syndrome. The results showed that breath holding served an operant function, primarily to gain access to attention. The intervention, consisting of extinction, scheduled attention, and use of a picture card communication system, resulted in decreased breath holding.     

Patients with chronic fatigue syndrome do not score higher on the autism‐spectrum quotient than healthy controls: Comparison with autism spectrum disorder

Clinically, there is an overlap of several symptoms of chronic fatigue syndrome (CFS ) and autism spectrum disorder (ASD ), including fatigue; brain “fog”; cognitive impairments; increased sensitivity to sound, light, and odour; increased pain and tenderness; and impaired emotional contact. Adults with CFS (n = 59) or ASD (n = 50) and healthy controls (HC ; n = 53) were assessed with the Autism‐Spectrum Quotient (AQ ) in a cross‐sectional study. Non‐parametric analysis was used to compare AQ scores among the groups. Univariate analysis of variance (ANCOVA ) was used to identify if age, sex, or diagnostic group influenced the differences in scores. Patients with ASD scored significantly higher on the AQ than the CFS group and the HC group. No differences in AQ scores were found between the CFS and HC groups. AQ results were influenced by the diagnostic group but not by age or sex, according to ANCOVA . Despite clinical observations of symptom overlap between ASD and CFS , adult patients with CFS report few autistic traits in the self‐report instrument, the AQ . The choice of instrument to assess autistic traits may influence the results.     

中医证实质研究的困惑及出路

根据中医证实质研究的现状,分析了证实质研究存在困惑的原因,并提出证的诊断标准化以及走病证结合的研究之路是中医证实质研究的出路。     

The Psychological Burden Inflicted By Multiple Cancers in Li-Fraumeni Families: Five Case Studies

To gain insight into the psychological, emotional, relational, and family problems of families afflicted by Li-Fraumeni syndrome, we interviewed members of five such families in the Pediatric Oncology Department, Gustave Roussy Institute, where at least one member of the family had been treated. These interviews showed that families were psychologically fragile, that their interactions and thinking patterns were related to a family background plagued by the repeated occurrence of cancer, and was often marked by physical or psychological violence. They had complex imaginary etiologic explanations, and showed an ambivalent willingness to learn about cancer and the risks involved. They expressed their fear of transmitting doom and death, posed questions about whether their parents would have had them had they known the test result, and about what their own attitude would be toward childbearing. Thus genetic testing awoke disconcerting and unsolved questions for them. These first results can contribute to the design of supportive interventions and future clinical research.     

An Opportunity for Genetic Counseling Intervention: Depression in Parents of Individuals with Proteus Syndrome

Depression is common, affecting 2–5% of the general population. Parental depression can confound adjustment to, and caring for, a child with a genetic condition. As part of a study on psychosocial issues of parents caring for children with Proteus syndrome, 31 parents (20 mothers and 11 fathers) completed a depression screening tool, the Beck Depression Inventory. Approximately 23% (4/20 mothers and 3/11 fathers) scored positive on the tool. Pessimism, sense of failure, general lack of satisfaction, sense of punishment, self-dislike, social withdrawal, indecisiveness, work inhibition, somatic preoccupation, and loss of libido were reported more frequently by the group of parents with positive screen results than those with normal results. These data suggest that symptoms of depression may be prevailing among parents of individuals with Proteus syndrome. Because effective interventions for depression are readily available, genetic counselors working with families affected with rare, overgrowth disorders should specifically assess parents for physical and affective symptoms of depression and refer them for appropriate clinical treatment.     

The relationships among verbal short-term memory, phonological awareness, and new word learning: evidence from typical development and Down syndrome

This study examined the correlates of new word learning in a sample of 64 typically developing children between 5 and 8 years of age and a group of 22 teenagers and young adults with Down syndrome. Verbal short-term memory and phonological awareness skills were assessed to determine whether learning new words involved accurately representing phonological information in memory. Results showed a relationship between verbal short-term memory measures and typically developing individuals’ ability to learn the phonological form of novel words but not their ability to learn the physical referent of new words. Similarly, individuals with Down syndrome showed impaired verbal short-term memory and impaired form but not referent learning. Together, these findings specify the circumstances in which an accurate phonological representation within short-term memory is required for new word learning.