We determined whether bone mineral density (BMD) is lower in boys with autism spectrum disorders (ASD) than controls, and also assessed variables that may affect BMD in ASD. BMD was measured using dual energy X-ray absorptiometry (DXA) in 18 boys with ASD and 19 controls 8–14 years old. Boys with ASD had lower BMD Z-scores at the spine, hip and femoral neck, and differences at the hip and femoral neck persisted after controlling for maturity and BMI. Vitamin D intake from food and in serum were lower in ASD subjects, as was exercise activity. We conclude that BMD is lower in peripubertal boys with ASD and may be associated with impaired vitamin D status and lower exercise activity.
We explored pancreatic neuroendocrine tumors (PanNETs) associated with tuberous sclerosis complex (TSC) to determine their incidence in the TSC population; define their clinical, radiological, and pathological characteristics; and investigate their association with underlying genotypes. Retrospectively reviewed abdominal imaging of 219 patients with TSC, evaluating the incidence, size, and architecture of pancreatic lesions. Pathology records at Massachusetts General Hospital (MGH) were reviewed for all PanNET diagnoses in patients with TSC. Literature was reviewed for TSC-related PanNET cases. Nine patients with TSC were found to have a pancreatic lesion(s) on abdominal imaging and six patients have been diagnosed with a PanNET by pathology at MGH. Twelve cases of TSC-associated PanNETs have been reported in the literature. Of these 18 PanNET cases, one third were cystic, and the average age at resection was 26 years. Germline TSC2 mutations were found in all patients for whom genetic data were available (n = 3). We did not identify pancreatic angiomyolipomas in this series. Our results suggest that PanNETs are the most common pancreatic lesion in patients with TSC. Focal pancreatic mass lesions, solid or cystic, in patients with TSC should be considered possible PanNETs, and resection of the lesion may be clinically indicated. Conflict of interestNothing to declare. Pancreatic neuroendocrine tumors (PanNETs) are rare, representing 1-2% of all pancreatic cancer, with an annual incidence of 2.2 in 1,000,000 individuals (1). Although they carry a much better prognosis than pancreatic adenocarcinoma, survival rates remain 64% at 5 years and 44% at 10 years (2). The current standard of care for PanNETs is surgical resection. PanNETs can occur sporadically or in the setting of an autosomal dominant genetic syndrome, principally, multiple endocrine neoplasia type 1 (MEN1) but also von Hippel Lindau, neurofibromatosis type 1, and tuberous sclerosis complex (TSC) (3-6). To date, the connection between PanNETs and TSC has not been formally investigated beyond several single case reports (7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18). In this study, we examine a large series of TSC patients to define the clinical characteristics of TSC-associated PanNETs. AMTSC is an autosomal dominant genetic disorder, characterized by the development of hamartomas, benign tumors, and rarely, malignant tumors in multiple organs including the brain, heart, eyes, kidney, skin, and lungs. The underlying genetic abnormality is a germline mutation in TSC1 and TSC2 tumor suppressor genes, resulting in loss of the respective encoded proteins hamartin or tuberin and activation of the mammalian target of rapamycin complex 1 (mTORC1) pathway, 558
Many children with autism spectrum disorder (ASD) have notable difficulties in motor, speech and language domains. The connection between motor skills (oral-motor, manual-motor) and speech and language deficits reported in other developmental disorders raises important questions about a potential relationship between motor skills and speech-language deficits in ASD. To this end, we examined data from children with ASD (n = 1781), 2-17 years of age, enrolled in the Autism Speaks-Autism Treatment Network (AS-ATN) registry who completed a multidisciplinary evaluation that included diagnostic, physical, cognitive and behavioral assessments as part of a routine standard of care protocol. After adjusting for age, non-verbal IQ, Attention Deficit Hyperactivity Disorder (ADHD) medication use, and muscle tone, separate multiple linear regression analyses revealed significant positive associations of fine motor skills (FM) with both expressive language (EL) and receptive language (RL) skills in an impaired FM subgroup; in contrast, the impaired gross motor (GM) subgroup showed no association with EL but a significant negative association with RL. Similar analyses between motor skills and interpersonal relationships across the sample found both GM skills and FM skills to be associated with social interactions. These results suggest potential differences in the contributions of fine versus gross motor skills to autistic profiles and may provide another lens with which to view communication differences across the autism spectrum for use in treatment interventions.
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