PurposeHaploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), seizures, and hypogonadism. Further, USP7 was identified to critically incorporate into the MAGEL2-USP7-TRIM27 (MUST), such that pathogenic variants in USP7 lead to altered endosomal F-actin polymerization and dysregulated protein recycling.MethodsWe report 16 newly identified individuals with heterozygous USP7 variants, identified by genome or exome sequencing or by chromosome microarray analysis. Clinical features were evaluated by review of medical records. Additional clinical information was obtained on the seven previously reported individuals to fully elucidate the phenotypic expression associated with USP7 haploinsufficiency.ResultsThe clinical manifestations of these 23 individuals suggest a syndrome characterized by DD/ID, hypotonia, eye anomalies,feeding difficulties, GERD, behavioral anomalies, and ASD, and more specific phenotypes of speech delays including a nonverbal phenotype and abnormal brain magnetic resonance image findings including white matter changes based on neuroradiologic examination.ConclusionThe consistency of clinical features among all individuals presented regardless of de novo USP7 variant type supports haploinsufficiency as a mechanism for pathogenesis and refines the clinical impact faced by affected individuals and caregivers.

In an attempt to test the hypothesis that performance on unstructured or open-ended cognitive tests will be impaired by sensory deprivation (SD), the Guilford battery of creative thinking, consisting of 10 subtests, was administered to a group of 18 experimental Ss before and after one day of SD. The results showed that, relative to a group of 18 controls, only the performance on associational fluency was significantly impaired. Three possible explanations were offered for these essentially negative results.

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Subjects who were exposed to 5 min of perceptual deprivation (unpattemed light and white noise) or to a similar duration of visual, auditory, or kinesthetic deprivation showed no significant changes in the tachistoscopic recognition threshold for digits relative to two control groups. Similar results were obtained in a second experiment employing a condition of sensory deprivation (darkness and silence).Two short-duration studies have reported that either a 5- (Rosenbaum et ai, 1959) or a 50-min period (Friel & Derogatis, 1965) of sensory restriction, involving a reduction in visual, auditory, and kinesthetic stimulation, can produce a significant lowering of the tachistoscopic recognition threshold for digits and nouns. The purpose of this study is to determine whether a similar facilitatory phenomenon can occur after a 5-min deprivation period of only one modality. Such an effect might be expected since it has been shown that many of the facilitatory changes reported after prolonged durations of multi-modality sensory restriction can result from visual deprivation alone (Zubek, in press).EXPERIMENT 1 Method. The sample consisted of 90 male university students randomly divided into six groups, each containing 15 Ss. Two of the groups were control Ss while the remaining four were exposed to different experimental treatments. Each S served in one condition only. Prior to participation, each S was informed that this was an experiment designed to investigate the effect of various forms of relaxation on visual acuity and that all that was required of him was to relax and follow instructions. During the 5-min deprivation period, S sat in a comfortable chair in a room illuminated with an overhead light and decorated with colorful travel posters. The perceptually deprived Ss (PO) were strapped to the chair to restrict movements and wore a white mask, which permitted light but eliminated pattern vision, and earphones producing a white noise somewhat above the threshold of hearing; the visually deprived group (YO) wore a white mask and received normal auditory stimulation; the auditory group (AD) was exposed to white noise and provided with magazines as additional visual stimulation; and fmally, the kinesthetic group (KO) was strapped to the chair but received normal visual and auditory stimulation. In addition, two control groups were employed. One group merely sat in the chair with reading material while the other spent the 5 min in a students' common room.The visual recognition threshold for each S was determined immediately before and 2 min after the termination of the 5-min deprivation or control period by presenting, one at a time, eight randomly constructed five-