Stigma Associated with Classical Congenital Adrenal Hyperplasia in Women's Sexual Lives.

The risk of intersex-related stigma often serves as social indication for "corrective" genital surgery, but has not been comprehensively documented. In preparation for the development of an intersex-specific stigma assessment tool, this qualitative project aimed to explore stigma in girls and women with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. As part of a comprehensive follow-up project, 62 adult women with classical CAH (age range 18-51 years) took part in an open-ended retrospective interview focusing on the impact of CAH and its treatment on various aspects of girls' and women's lives. Deductive qualitative content analysis (Patton, 2014) of de-identified transcripts involved categorization of three types of stigma: experienced, anticipated, and internalized. Two-fifths of the participants reported CAH-related stigma in romantic/sexual situations. Stigma enactment by romantic partners occurred in reaction to both genital and non-genital sex-atypical features of CAH and sometimes included explicit questioning of the women's true gender. Stigma anticipation by the women and their related avoidance of nudity, genital exposure, and romantic involvement altogether were frequent. Internalization of stigma occurred as well. In conclusion, the data suggest that many women with CAH experience, anticipate, and/or internalize intersex-related stigma in the context of their romantic/sexual lives.

Syndrome-Related Stigma in the General Social Environment as Reported by Women with Classical Congenital Adrenal Hyperplasia.

Stigma defined as "undesired differentness" (Goffman, 1963) and subtyped as "experienced" or "enacted," "anticipated," and "internalized" has been documented for patients with diverse chronic diseases. However, no systematic data exist on the association of stigma with somatic intersexuality. The current report concerns women with classical congenital adrenal hyperplasia (CAH), the most prevalent intersex syndrome, and provides descriptive data on CAH-related stigma as experienced in the general social environment (excluding medical settings and romantic/sexual partners) during childhood, adolescence, and adulthood. A total of 62 adult women with classical CAH [41 with the salt-wasting (SW) variant and 21 with the simple-virilizing (SV) variant] underwent a qualitative retrospective interview, which focused on the impact of CAH and its medical treatment on many aspects of women's lives. Deductive content analysis was performed on the transcribed texts. The women's accounts of CAH-related stigma were identified and excerpted as vignettes, and the vignettes categorized according to social context, stigma type, and the associated features of the CAH condition. Nearly two-thirds of women with either variant of CAH provided stigma vignettes. The vignettes included all three stigma types, and most involved some somatic or behavioral feature related to sex or gender. Stigma situations were reported for all ages and all social contexts of everyday life: family, peers, colleagues at work, strangers, and the media. We conclude that there is a need for systematic documentation of stigma in intersexuality as a basis for the development of improved approaches to prevention and intervention.

Stigma in Medical Settings As Reported Retrospectively by Women With Congenital Adrenal Hyperplasia (CAH) for Their Childhood and Adolescence.

Objectives: To perform a qualitative study of stigma experienced in medical settings by children and adolescents with congenital genital ambiguity (CGA). Methods: 62 women with classical congenital adrenal hyperplasia (CAH) of variable severity took part in a qualitative retrospective interview that focused on the impact of CAH and its medical treatment, with an emphasis on childhood and adolescence. Categorization of stigmatization was based on deductive content analysis of the interview transcripts. Results: Many women recalled experiencing the genital examinations in childhood and adolescence as adverse, stigmatizing events, leading to avoidance reactions and self-perception as abnormal, particularly when the examinations included groups of trainees. Some women also experienced as adverse the nonverbal and verbal reactions of individual physicians who were unfamiliar with CGA. Conclusions: Genital examinations constitute salient events for children and adolescents with CGA. They are easily experienced as strongly stigmatizing, especially when combined with teaching.

Sex differences in the behavior of children with the 22q11 deletion syndrome.

High rates of psychiatric impairment in adults with 22q11 deletion syndrome (22q11DS, also referred to as DiGeorge or velocardiofacial syndrome) suggest that behavioral trajectories of children with 22q11DS may provide critical etiologic insights. Past findings that report Diagnostic and Statistical Manual (DSM) diagnoses are extremely variable; moreover, sex differences in behavior have not yet been examined. Child Behavior Checklist (CBCL) ratings from 82 children, including 51 with the 22q11DS and 31 control siblings, were analyzed. Strikingly consistent with rates of psychiatric impairment among affected adults, 25% of children with 22q11DS had high CBCL scores for Total Impairment, and 20% had high CBCL Internalizing Scale scores. Males accounted for 90% of high Internalizing scores and 67% of high Total Impairment scores. Attention and Social Problems were ubiquitous; more affected males than females (23% vs. 4%) scored high on Thought Problems. With regard to CBCL/DSM overlap, 20% of affected males as compared with 0 affected females had one or more high CBCL ratings in the absence of a DSM diagnosis. Behaviors of children with 22q11DS are characterized by marked sex differences when rated dimensionally, with significantly more males experiencing Internalizing and Thought Problems. Categorical diagnoses do not reflect behavioral differences between male and female children with 22q11DS, and may miss significant behavior problems in 20% of affected males.

Neuromotor deficits in children with the 22q11 deletion syndrome.

The 22q11 chromosomal deletion syndrome (22q11DS) is associated with a heterogeneous physical phenotype, neurocognitive deficits, and increased risk of later psychiatric illness. Sporadic clinical reports suggested motor differences, but quantitative studies of movement in children with 22q11DS are rare. If present in a majority of affected school-age children, characterization of neuromotor deficits may prove to be critical for intervention, neurocognitive test interpretation, and understanding etiology. We administered the Movement Assessment Battery for Children to 72 children ages 4.3 to 16.1, including 49 children confirmed positive for the 22q11 deletion and 23 control siblings. We predicted a higher frequency of global and domain impairment in manual dexterity, eye-hand coordination, and balance among affected children. Ninety-four percent of affected children had marked neuromotor deficits, and group scores differed broadly for both global and subarea measures. Secondary analyses showed no impairment differences between younger and older children with 22q11DS, and longitudinal trajectories for 12 affected children suggested stability of deficits over 3-year intervals. Neuromotor deficits in children with 22q11DS occur early in development, continue throughout the school-age years, should be considered in the interpretation of motor-based achievement and IQ tests, and require targeted and ongoing remediation throughout childhood and adolescence. Further studies examining the specificity of motor impairment to 22q11DS are needed.

Olfactory disorder in children with 22q11 deletion syndrome.

OBJECTIVE: 22q11 deletion syndrome, a common human interstitial deletion syndrome (1:5000), is associated with a heterogeneous physical phenotype, including several factors that markedly increase the risk for olfactory disorder. Despite its potential consequences, pediatric studies of impaired olfaction are rare, and odor detection in children with 22q11 deletion syndrome has not yet been examined. METHODS: The University of Pennsylvania Smell Identification Test was administered to 62 children, including 39 with 22q11 deletion syndrome and 23 neurotypical control siblings who ranged in age from 5.3 to 14.8 years. Lowered smell detection accuracy among affected children was predicted. RESULTS: Substantially more children with 22q11 deletion syndrome (68%) as compared with neurotypical control subjects (13%) had University of Pennsylvania Smell Identification Test scores > or = 2 SDs below the standardization sample mean. Frequency of impairment in younger versus older children did not differ. The score distributions of children with and without velopharyngeal insufficiency did not differ; however, markedly lower score variance among children with velopharyngeal insufficiency suggested its negative impact on olfaction. Posthoc error analyses revealed that affected children had special difficulty detecting smells that are associated with fumes and smoke. CONCLUSIONS: Odor detection failures are ubiquitous among children with 22q11 deletion syndrome and are not associated with developmental delay or performance characteristics of younger affected children. Additional studies are needed to examine further the impact on olfaction of velopharyngeal insufficiency and compromised nasal airway patency. Children with 22q11 deletion syndrome should be evaluated routinely for olfactory disorder. When deficits are identified, caregivers should be warned of potential dangers that are associated with this type of sensory impairment.

Neuropsychological characteristics of children with the 22q11 Deletion Syndrome: a descriptive analysis.

Previous reports of cognitive functioning in children with the 22q11 Deletion Syndrome have reported marked variability in IQ and achievement subtest scores. Studies have begun to explore neuropsychological function in 22q11 DS however results are inconsistent and the profile incomplete. We assessed 40 children ages 5-12 with 22q11 DS. Consistent with past results, visual-spatial memory was significantly lower than verbal memory. Differentially lowered scores were found only in visual attention, working memory and motor function. Contrary with some past results quantitative, verbal ability, and visual spatial memory scores were within 1 SD from the standardization sample mean. Motor behavior, not typically discussed with regard to 22q11 DS school-age children, may be critical to incorporate in neurocognitive studies of children with 22q11 DS. Implications of these findings are considered with regard to past results.