Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.

BACKGROUND: Cerebral palsy is a heterogeneous group of neurodevelopmental brain disorders resulting in motor and posture impairments often associated with cognitive, sensorial, and behavioural disturbances. Hypoxic-ischaemic injury, long considered the most frequent causative factor, accounts for fewer than 10% of cases, whereas a growing body of evidence suggests that diverse genetic abnormalities likely play a major role. METHODS AND RESULTS: This report describes an autosomal recessive form of spastic tetraplegic cerebral palsy with profound intellectual disability, microcephaly, epilepsy and white matter loss in a consanguineous family resulting from a homozygous deletion involving AP4E1, one of the four subunits of the adaptor protein complex-4 (AP-4), identified by chromosomal microarray analysis. CONCLUSION: These findings, along with previous reports of human and mouse mutations in other members of the complex, indicate that disruption of any one of the four subunits of AP-4 causes dysfunction of the entire complex, leading to a distinct 'AP-4 deficiency syndrome'.

A confirmatory factor analysis of the Boredom Proneness Scale.

Researchers have extensively investigated the factor structure of the Boredom Proneness Scale (BPS; R. Farmer & N. D. Sundberg, 1986) using exploratory factor analyses (EFAs), with inconsistent methodology and results. Thus, the purpose of the present study was to perform confirmatory factor analyses on the BPS to better determine the nature and extent of its underlying factor structure. Participants were 279 undergraduate students majoring in psychology at a university in the southern United States. None of the tested models derived from earlier studies was a reasonable fit to the present data; therefore, the present authors performed an EFA. Although 2 factors were revealed, these results, coupled with markedly different results from previous factor analytic studies of the BPS, suggest it is unlikely that the present factor structure is replicable. The BPS does not appear to have a replicable factor structure.

Confirmatory factor analysis of the Computer Understanding and Experience Scale.

The two-factor structure (Technical Competence, General Competence) of the Computer Understanding and Experience Scale was examined through confirmatory factor analysis with a sample of 293 undergraduates from a medium-sized university located in the southern USA. Analysis indicated that the two-factor subscale structure of the Computer Understanding and Experience Scale was supported. The Computer Understanding and Experience Scale's total score is internally consistent (.82) with reliability coefficients for the two subscales of .75 for Technical Competence and .71 for General Competence. The importance of increasing diversity of the sample in subsequent studies is discussed.

On the relationship between meaning in life and boredom proneness: examining a logotherapy postulate.

Logotherapy, developed by Viktor Frankl, posits that when one lacks meaning in life, boredom can result. Thus, the two constructs should be inversely related. To examine this relationship, 279 students (M = 19.8 yr., SD = 2.6; 179 women, 98 men) from a university in the southern United States were administered the Purpose of Life test and the Boredom Proneness Scale. As expected, a statistically significant negative correlation was found between the scores on the two scales (r = -.71). Directions for research are offered.