Bone Density in Adolescents and Young Adults with Autism Spectrum Disorders

Ekhlaspour, Laya; Baskaran, Charumathi; Campoverde, Karen Joanie; Sokoloff, Natalia Cano; Neumeyer, Ann M.; Misra, Madhusmita

doi:10.1007/s10803-016-2871-9

Cited by 28 publications

(19 citation statements)

References 30 publications

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“…In addition to identifying previously reported associations of genetic liability for ASD, our MR-pheWAS also revealed novel associations. We found a strong association of genetic liability for ASD with decreased heel bone mineral density, which furthers previous evidence from observational studies that children and adolescents with ASD have lower bone mineral density (17, 18), higher frequency of bone fractures (19) and lower vitamin D levels (20, 21), which is essential for bone metabolism. This might suggest that these observed associations may be due to pleiotropic effects of genetic variants associated with bone health.…”

Section: Discussionsupporting

confidence: 88%

A cross-disorder MR-pheWAS of 5 major psychiatric disorders in UK Biobank

Leppert

Millard

Riglin

et al. 2019

Preprint

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25Psychiatric disorders are highly heritable and associated with a wide variety of social 26 adversity and physical health problems. Using genetic liability (rather than phenotypic 27 measures of disease) as a proxy for psychiatric disease risk can be a useful alternative 28 3 50 AUTHOR SUMMARY 51 Psychiatric disorders are associated with a wide range of adverse health, social and 52 economic problems. Our study investigates the association of genetic risk for five 53 common psychiatric disorders with socio-demographics, lifestyle and health of about 54 330,000 participants in the UK Biobank using a systematic, hypothesis-free approach. 55 We found that genetic risk for attention deficit/hyperactivity disorder (ADHD) and 56 bipolar disorder were most strongly associated with lifestyle factors, such as time of 57 first sexual intercourse and educational attainment. Genetic risks for autism spectrum 58 disorder and schizophrenia were associated with altered blood cell counts and time 59 playing computer games, respectively. Increased genetic risk for depression was 60 associated with other mental health outcomes such as neuroticism and irritability. In 61 general, our results suggest that genetic risk for psychiatric disorders associates with 62 a range of health and lifestyle traits that were measured in adulthood, in individuals 63 from the general population who do not necessarily present with a psychiatric disorder 64 diagnosis. However, it is important to note that these associations aren't necessary 65 causal but can themselves be influenced by other factors, like socio-economic factors 66 and selection into the cohort. The findings inform future hypotheses to be tested using 67 causally informative designs. 4 68 101 common psychiatric disorders -attention-deficit/ hyperactivity disorder (ADHD), 102 autism spectrum disorder (ASD), schizophrenia (SCZ), major depression (MDD) and 103 bipolar disorder (BP) -with a wide range of socio-demographic, lifestyle, physical and 104 mental health outcomes in UK Biobank, using the systematic hypothesis-free MR-105 pheWAS approach. 6 106 RESULTS 107In total 334,976 participants of white British ancestry in UK Biobank were included in 108 this study with an average age of 56 (standard deviation [SD]=8) years. A descriptive 109 overview of selected UK Biobank study sample characteristics is given in Figure 1A. 110The UK Biobank participants are known to be more educated and healthier than the 111 average UK population which is reflected in the high percentage of people with a 112 university degree (47%) and low prevalence of current smoking (10%) in the sample, 113 which is comparable to the full UK Biobank release (9). Furthermore, 34% of 114 participants reported to have seen a general practitioner and 11% a psychiatrist for 115 nerves, anxiety, tension or depression but there are few cases of schizophrenia 116 (n=132), ADHD (n=71), ASD (n=143) or bipolar disorder (n=439). An overview of UK 117 Biobank phenotype categories is given in Figure 1B. 118 DISORDER SP...

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Section: Discussionsupporting

confidence: 88%

A cross-disorder MR-pheWAS of 5 major psychiatric disorders in UK Biobank

Leppert

Millard

Riglin

et al. 2019

Preprint

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“…Studies have shown that postpubescent children with ASD, CP, and Down syndrome have lower bone mineral densities at the level of the lumbar spine, femoral neck, and hip, compared to children without those syndromes. 8,12,16 Such findings have not been reported at the skull base.…”

Section: Medical Historymentioning

confidence: 65%

Pediatric superior semicircular canal dehiscence: illustrative case and systematic review

Lagman¹,

Ong²,

Chung³

et al. 2017

Journal of Neurosurgery: Pediatrics

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OBJECTIVEThe purpose of this study is to present an illustrative case of pediatric superior semicircular canal dehiscence (SSCD) and to systematically review the current published literature in the pediatric population.METHODSAn electronic search of the Scopus, Web of Science, PsycINFO, Cochrane, and Embase databases was performed by 2 independent authors through January 2017. Search term combinations included “pediatrics,” “children,” “canal,” and “dehiscence.” Inclusion criteria were as follows: English, full-text clinical studies, case reports, and case series describing pediatric patient(s) (younger than 18 years) with CT evidence of SSCD. Baseline patient demographic characteristics, clinical presentations, dehiscence characteristics, management strategies, and outcome data were extracted.RESULTSA total of 14 studies involving 122 patients were included in the quantitative synthesis. The patients’ mean age was 7.22 years. Male predominance was observed (approximate male-to-female ratio of 1.65:1). Neurodevelopmental disorders were common (n = 14, 11.5%). Auditory signs and symptoms were more common than vestibular signs and symptoms. Hearing loss (n = 62, 50.8%) was the most common auditory symptom and an indicator for imaging evaluation. Vertigo was the most common vestibular symptom (n = 8, 6.6%). Hearing aids were recommended in 8 cases (6.6%), and surgical repair was performed in 1 case (0.8%). Symptom outcomes and follow-up durations were infrequently reported.CONCLUSIONSThe authors’ data suggest that in pediatric SSCD, males are more commonly affected than females. This is different than the adult population in which females are predominantly affected. A history of otologic and/or neurodevelopmental abnormalities was common. There was a preponderance of auditory symptoms in this age group. Conservative management was favored in the majority.

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“…Cross sectional and longitudinal studies have reported that boys with autism spectrum disorder (ASD) have decreased bone mineral density (BMD) at the femoral neck, hip and spine compared to typically developing controls (TDC) [1–3]. Other groups have described decreased bone cortical thickness in boys with ASD using radiography [4].…”

Section: Introductionmentioning

confidence: 99%