Impaired communication ability in SOX11 syndrome.

BACKGROUND: Speech and language skills are important for social interaction and learning. This study characterised the communication abilities of verbal individuals with SOX11 syndrome using a standardised parent/carer questionnaire, the Children's Communication Checklist (CCC-2). METHOD: Thirteen parent/carers of verbal individuals (aged 5-19 years) diagnosed with SOX11 syndrome completed the CCC-2. In order to contextualise findings, responses were compared to norms and to data from Noonan syndrome, a relatively well-known genetic diagnosis associated with communication impairment. RESULTS: For all individuals, the CCC-2 composite score indicated significant communication difficulties. Language structure (speech, syntax, semantics and coherence), pragmatic language (inappropriate initiation, stereotyped language use of context and non-verbal communication) and autistic features (social relations and interests) scores were lower than typically developing norms. Subscale comparisons revealed relative difference in use of context compared to other pragmatic domains (stereotyped language and inappropriate initiation). Individual scores showed substantial variation, particularly in regard to language structure profile. Differences were more pronounced than for Noonan syndrome, specifically in domains of speech, syntax, non-verbal communication and social relations. CONCLUSIONS: SOX11 syndrome is associated with communication impairment. It is important to assess communication abilities as part of the management of individuals with SOX11 syndrome and understand individual strengths and difficulties in order to provide targeted support.

Exploring the approximate number system in Sotos syndrome: insights from a dot comparison task.

BACKGROUND: Sotos syndrome is a congenital overgrowth condition associated with intellectual disability and an uneven cognitive profile. Previous research has established that individuals with Sotos syndrome have relatively poor mathematical ability, but domain-specific numeracy skills have not been explored within this population. This study investigated the approximate number system (ANS) in Sotos syndrome. METHOD: A dot comparison task was administered to 20 participants with Sotos syndrome (mean age in years = 18.43, SD = 9.29). Performance was compared to a chronological agematched typically developing control group (n = 25) and a mental age-matched Williams syndrome group (n = 24). RESULTS: The Sotos group did not display an ANS deficit overall when compared to chronological agematched control participants. However, for trials where the size of the individual dots and the envelope area were negatively correlated with the total number of dots (incongruent trials), the Sotos group were less accurate than the typically developing group but more accurate than the Williams syndrome group, suggesting an inhibitory control deficit. Better accuracy on incongruent trials, but not congruent trials, was associated with higher quantitative reasoning ability for participants with Sotos syndrome. CONCLUSION: Overall, the findings suggest that ANS acuity is not impaired in Sotos syndrome but that numerical difficulties may be associated with an inhibitory control deficit for individuals with Sotos syndrome.

The eye gaze direction of an observed person can bias perception, memory, and attention in adolescents with and without autism spectrum disorder.

The reported experiments aimed to investigate whether a person and his or her gaze direction presented in the context of a naturalistic scene cause perception, memory, and attention to be biased in typically developing adolescents and high-functioning adolescents with autism spectrum disorder (ASD). A novel computerized image manipulation program presented a series of photographic scenes, each containing a person. The program enabled participants to laterally maneuver the scenes behind a static window, the borders of which partially occluded the scenes. The gaze direction of the person in the scenes spontaneously cued attention of both groups in the direction of gaze, affecting judgments of preference (Experiment 1a) and causing memory biases (Experiment 1b). Experiment 2 showed that the gaze direction of a person cues visual search accurately to the exact location of gaze in both groups. These findings suggest that biases in preference, memory, and attention are caused by another person's gaze direction when viewed in a complex scene in adolescents with and without ASD.

Do gaze cues in complex scenes capture and direct the attention of high functioning adolescents with ASD? Evidence from eye-tracking.

Visual fixation patterns whilst viewing complex photographic scenes containing one person were studied in 24 high-functioning adolescents with Autism Spectrum Disorders (ASD) and 24 matched typically developing adolescents. Over two different scene presentation durations both groups spent a large, strikingly similar proportion of their viewing time fixating the person's face. However, time-course analyses revealed differences between groups in priorities of attention to the region of the face containing the eyes. It was also noted that although individuals with ASD were rapidly cued by the gaze direction of the person in the scene, this was not followed by an immediate increase in total fixation duration at the location of gaze, which was the case for typically developing individuals.

Molluscum Contagiosum-Induced Periocular Toxic Dermatitis.

This report describes an unusual case of a 9-year-old boy with a 6-month history of right lower eyelid lesion and excoriation of the adjoining skin that had not responded to topical treatment. The umbilicated lesion was electively excised and the base of the lesion was cauterized under general anesthesia, which resulted in complete resolution of the periocular dermatitis without additional treatment. It is important to consider molluscum contagiosum in the differential diagnosis in patients with periocular dermatitis, especially in the presence of an umbilicated vesicle, although it is classically taught that these lesions present with toxic conjunctivitis.

T-cell responses to human papillomavirus type 16 among women with different grades of cervical neoplasia.

Infection with high-risk genital human papillomavirus (HPV) types is a major risk factor for the development of cervical intraepithelial neoplasia (CIN) and invasive cervical carcinoma. The design of effective immunotherapies requires a greater understanding of how HPV-specific T-cell responses are involved in disease clearance and/or progression. Here, we have investigated T-cell responses to five HPV16 proteins (E6, E7, E4, L1 and L2) in women with CIN or cervical carcinoma directly ex vivo. T-cell responses were observed in the majority (78%) of samples. The frequency of CD4+ responders was far lower among those with progressive disease, indicating that the CD4+ T-cell response might be important in HPV clearance. CD8+ reactivity to E6 peptides was dominant across all disease grades, inferring that E6-specific CD8+ T cells are not vitally involved in disease clearance. T-cell responses were demonstrated in the majority (80%) of cervical cancer patients, but are obviously ineffective. Our study reveals significant differences in HPV16 immunity during progressive CIN. We conclude that the HPV-specific CD4+ T-cell response should be an important consideration in immunotherapy design, which should aim to target preinvasive disease.

Intraepithelial neoplasia, human papilloma virus infection and argyrophilic nucleoprotein in cervical epithelium.

A silver colloid technique was applied to 50 colposcopic biopsies of cervix. These comprised nine cases of wart virus infection of the cervix, 11 cases of cervical intraepithelial neoplasia (CIN) I, nine cases of CIN II, eight cases of CIN III, seven normal biopsies and six cases showing only incomplete squamous metaplasia. The mean numbers of argyrophilic nucleolar organizer regions (AgNORS) increased from CIN I to CIN III. Statistically significant differences for AgNORs were found in comparisons between CIN III, normal basal cells, human papilloma virus-infected basal cells and incomplete squamous metaplasia, and in comparisons between normal basal cells and human papilloma virus-infected basal cells. CIN III could be distinguished from incomplete squamous metaplasia and from basal cells and from human papilloma virus-infected basal cells. The latter could be distinguished from normal basal cells on the basis of their AgNORs. It is suggested that this simple technique is diagnostically useful and has considerable clinicopathological potential in cervical pathology and cytology.

Relationship between intraepithelial neoplasia of the cervix and the size and number of nucleolar organizer regions.

A silver colloid technique was applied to 18 colposcopic biopsies of the cervix. These comprised 7 cases of cervical intraepithelial neoplasia I (CIN I), 5 cases of CIN II, and 6 cases of CIN III. The nucleolar organizer regions subsequently visualized (AgNORs) were enumerated using an oil immersion lens. The maximum diameters of the AgNORs and aggregates thereof were measured, by hand, from carefully calibrated monochrome photographs. The mean numbers of AgNORs subsequently identified steadily increased, whereas the mean sizes of AgNORs decreased from CIN I to CIN III. In CIN I the mean AgNOR number was 2.3 (range 1.8-3.4) and the AgNOR mean maximum diameter (Dmax) was 1.28 microns (range 0.75-1.75). In CIN II the mean number was 3.5 (range 3.1-4.6) and the AgNOR Dmax was 0.98 micron (range 0.9-1.18). In CIN III the mean number was 4.7 (range 4.0-6.1) and the Dmax was 0.62 micron (range 0.51-0.9). CIN III could be distinguished from CIN I and CIN II on the basis of AgNOR sizes, and an inverse relationship between AgNOR numbers and sizes was established.

Raised dopamine metabolites in a case of malignant paraganglioma.

This paper describes the case of a malignant retroperitoneal paraganglioma with extensive metastases. The patient presented with a supraclavicular mass and an absence of hypertension. Exclusively raised dopamine metabolites were detected which may be a marker of a malignant process and account for the lack of hypertension.