Developmental Disabilities Across the Lifespan

Patel, Dilip R.; Greydanus, Donald E.; Calles, Joseph L.; Pratt, Helen D.

doi:10.1016/j.disamonth.2010.02.001

Cited by 52 publications

(44 citation statements)

References 226 publications

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“…Although normal sperm development has been reported in some orchidectomy specimens, there have been no reports of paternity in PWS [Vogels et al, 2008]. The results on sexual interests from our study show that education about relationships and sexuality in persons with PWS is as important as in the general ID population [Servais, 2006;Clark and O'Toole, 2007;Patel et al, 2010]. Our data also indicate that adults with PWS are at risk of sexual abuse.…”

Section: Sexual Interestcontrasting

confidence: 40%

Physical health problems in adults with Prader–Willi syndrome

Sinnema

Maaskant

Valk

et al. 2011

American J of Med Genetics Pt A

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Prader-Willi syndrome (PWS) is a genetic disorder which is characterized by severe hypotonia and feeding problems in early infancy. In later childhood and adolescence, this is followed by hyperphagia and extreme obesity if the diet is not strictly controlled. Data on physical health problems in adults with PWS are scarce. We report on the prevalence of physical health problems in a Dutch cohort of adults with PWS in relation to age, BMI, and genetic subtype. Participants (n = 102) were retrieved via the Dutch Prader-Willi Parent Association and through physicians specializing in persons with intellectual disabilities (ID). Details regarding physical health problem spanning the participants' lifespan were collected from caretakers through semi-structured interviews. Cardiovascular problems included diabetes mellitus, hypertension, and cerebrovascular accidents. Respiratory infections were frequent in adulthood. In males, cryptorchidism was almost universal, for which 28/48 males had a history of surgery, mostly orchidopexy. None of the women had a regular menstrual cycle. Sixteen individuals had a diagnosis of osteoporosis. Spinal deformation, hip dysplasia, and foot abnormalities were common. Skinpicking, leg edema, and erysipelas were frequent dermatological problems. The findings in our group support the notion that the prevalence of physical health problems is underestimated. This underscores the importance of developing monitoring programs which would help to recognize physical health problems at an early stage.

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Section: Sexual Interestcontrasting

confidence: 40%

Physical health problems in adults with Prader–Willi syndrome

Sinnema

Maaskant

Valk

et al. 2011

American J of Med Genetics Pt A

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“…The former mothers are likely to face formidable time-pressures as disabilities diagnosed in infancy or very early tend to be more severe or bring greater physical impairment to the child's normal functioning (Powers 2003;Patel et al 2010). Furthermore, these mothers tend to find mainstream child care services to be unsuitable or unavailable for children with disabilities (Shearn and Todd 2000;Powers 2001;Porterfield 2002).…”

Section: Introductionmentioning

confidence: 96%

Maternal employment trajectories and caring for an infant or toddler with a disability

Zhu

2016

Applied Economics

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Mothers caring for an infant or toddler continue to face barriers in returning to work after child birth. Mothers caring for an infant or toddler with a disability, however, may face even greater barriers. This article contributes to the literature by exploring the employment costs for this group of mothers using a novel Australian administrative data set. The employment patterns of mothers with and without a disabled infant or toddler are compared both before and after child birth. The data follow 7600 mothers on a bi-weekly basis for the entire period 12 months before and the 24 months after child birth and contain information on the disability status of the child, measures of employment and the intensity of employment. I find that mothers of disabled toddlers and infants suffer employment disadvantages relative to mothers of non-disabled children. The employment gaps grow from approximately 6 percentage points shortly after their children are born to 14-17 percentage points when their children are 12-24 months old. The employment gaps exist for full-time employment as well as for short part-time employment.

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“…The prevalence of ASD among 8-year olds in the United States is estimated to be about 9 in 1000 (0.9%), with an approximately 4-fold higher occurrence in males compared to females [3]. The prevalence of ASD in Asia and Europe is reported to be 0.6%-1% [3]. Twin and family studies have shown that ASD are strongly influenced by genetics, with an estimated heritability of 0.9 for autistic disorder [4].…”

mentioning

confidence: 99%

“…The three primary forms of ASD--autistic disorder, pervasive developmental disorder-not otherwise specified and Asperger's syndrome--are usually diagnosed in early childhood and are widely considered to be caused by abnormalities in neurodevelopment [2]. The prevalence of ASD among 8-year olds in the United States is estimated to be about 9 in 1000 (0.9%), with an approximately 4-fold higher occurrence in males compared to females [3]. The prevalence of ASD in Asia and Europe is reported to be 0.6%-1% [3].…”

mentioning

confidence: 99%

The genetic architecture of autism spectrum disorders (ASDs) and the potential importance of common regulatory genetic variants

Saffen

2015

Sci. China Life Sci.

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Currently, there is great interest in identifying genetic variants that contribute to the risk of developing autism spectrum disorders (ASDs), due in part to recent increases in the frequency of diagnosis of these disorders worldwide. While there is nearly universal agreement that ASDs are complex diseases, with multiple genetic and environmental contributing factors, there is less agreement concerning the relative importance of common vs rare genetic variants in ASD liability. Recent observations that rare mutations and copy number variants (CNVs) are frequently associated with ASDs, combined with reduced fecundity of individuals with these disorders, has led to the hypothesis that ASDs are caused primarily by de novo or rare genetic mutations. Based on this model, large-scale whole-genome DNA sequencing has been proposed as the most appropriate method for discovering ASD liability genes. While this approach will undoubtedly identify many novel candidate genes and produce important new insights concerning the genetic causes of these disorders, a full accounting of the genetics of ASDs will be incomplete absent an understanding of the contributions of common regulatory variants, which are likely to influence ASD liability by modifying the effects of rare variants or, by assuming unfavorable combinations, directly produce these disorders. Because it is not yet possible to identify regulatory genetic variants by examination of DNA sequences alone, their identification will require experimentation. In this essay, I discuss these issues and describe the advantages of measurements of allelic expression imbalance (AEI) of mRNA expression for identifying cis-acting regulatory variants that contribute to ASDs. Saffen D. The genetic architecture of autism spectrum disorders (ASDs) and the potential importance of common regulatory genetic variants. Sci China Life Sci, 2015, 58: 968 -975,

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Developmental Disabilities Across the Lifespan

Cited by 52 publications

References 226 publications

Physical health problems in adults with Prader–Willi syndrome

Physical health problems in adults with Prader–Willi syndrome

Maternal employment trajectories and caring for an infant or toddler with a disability

The genetic architecture of autism spectrum disorders (ASDs) and the potential importance of common regulatory genetic variants

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