Environmental Health Research and Ethics

This chapter discusses some of the key ethical issues that arise in environmental health research involving human subjects, including returning individualized research results, protecting privacy and confidentiality, research on environmental interventions, intentional exposure studies, research regulations, autonomy, beneficence, informed consent, payments to subjects, and protecting vulnerable human subjects. The chapter will discuss issues that are common to all research designs, as well as those unique to certain types of designs, such as intentional exposure studies. It will also address ethical issues that arose in two important cases, the Kennedy Krieger Institute lead abatement study, and the Children’s Environmental Exposure Research Study.

Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI

Context Albright hereditary osteodystrophy (AHO) is caused by heterozygous inactivating mutations in GNAS. Depending on the parental origin of the mutated allele, patients develop either pseudohypoparathyroidism type 1A (PHP1A), with multihormone resistance and severe obesity, or pseudopseudohypoparathyroidism (PPHP), without hormonal abnormalities or marked obesity. Subcutaneous ossifications (SCOs) are a source of substantial morbidity in both PHP1A and PPHP. Objective This study investigated the previously undetermined prevalence of SCO formation in PHP1A vs PPHP as well as possible correlations with genotype, sex, age, hormonal resistance, and body mass index (BMI). Design This study evaluated patients with AHO for SCOs by physical examination performed by one consistent physician over 16 years. Setting Albright Clinic, Kennedy Krieger Institute; Institute for Clinical and Translational Research, Johns Hopkins Hospital; Albright Center, Connecticut Children’s Medical Center. Patients We evaluated 67 patients with AHO (49 with PHP1A, 18 with PPHP) with documented mutations in GNAS. Main Outcome Measures Relationships of SCOs to genotype, sex, age, hormonal resistance, and BMI. Results Forty-seven of 67 participants (70.1%) had SCOs. Patients with PHP1A and PPHP had similar prevalences and degrees of ossification formation. Patients with frameshift and nonsense mutations had much more extensive SCOs than those with missense mutations. Males were affected more than females. There was no correlation with hormonal status or BMI. Conclusions There is a similar prevalence of SCOs in PHP1A and PPHP, and the extent of SCO formation correlates with the severity of the mutation. Males are affected more extensively than females, and the SCOs tend to worsen with age.

Hidden Devices in the School Setting: What the Nurse Needs to Know About Shunts

The role of school nurse today not only includes making a thorough assessment of the child but also the knowledge and skill to understand hidden medical devices. As of 2011, there were approximately 14.6 million children in the United States living with special health care needs. Many of these children could have hidden medical devices. The Specialized Health Needs Interagency Collaboration (SHNIC) program at the Kennedy Krieger Institute received requests for in-person training regarding ventriculoperitoneal (VP) shunts.

Neurobiology of Disease

Neurobiology of Disease includes nearly 200 brief but substantial survey chapters on all the major disorders of the nervous system in both adults and children from the perspective of cutting edge neurobiology that is relevant to diagnosis and treatment. The chapters are written mostly by clinicians who are experts and thought leaders in their fields, and who are also active participants in clinical and/or basic research. Readers can find information about recent discoveries that are having a clinical impact, as well as reliable information about the new genetic discoveries that are driving diagnosis as well as being targets for therapeutic research. The book’s editors, Michael Johnston at Johns Hopkins and the Kennedy Krieger Institute, and Harold Adams at the University of Iowa, are respected international authorities in pediatric neurology and adult neurology, respectively, with substantial records of teaching and scholarship. Ali Fatemi, who trained in pediatric neurology and neurogenetics at Massachusetts General and is head of the Moser Center for Leukodystrophies, brings expertise in clinical and research neurogenetics to the editorial team.

A Genetic Multimutation Model of Autism Spectrum Disorder Fits Disparate Twin Concordance Data from the USA and Canada

Whether autism spectrum disorder (ASD) is caused by genetics, environmental factors, or a combination of both is still being debated today. To help resolve this issue, a genetic multimutation model of ASD development was applied to a wide variety of age-of-onset data from the USA and Canada, and the model is shown to fit all the data. Included in this analysis is new, updated data from the Interactive Autism Network (IAN) of the Kennedy Krieger Institute in Baltimore, Maryland. We find that the age-of-onset distribution for males and females is identical, suggesting that ASD may be an autosomal disorder. The ASD monozygote concordance rate in twin data predicted by the genetic multimutation model is shown to be compatible with the observed rates. If ASD is caused entirely by genetics, then the ASD concordance rate of a cohort of monozygote twins should approach 100% as the youngest pair of twins in the cohort passes 10 years of age, a prediction that constitutes a critical test of the genetic hypothesis. Thus, by measuring the ASD concordance rate as a cohort of monozygote twins age, the hypothesis that this disorder is caused entirely by genetic mutations can be tested.

Neurolinguistics

07–373Cutting, L. E. (Kennedy Krieger Institute, Baltimore, USA; [email protected]), A. M. Clements, S. L. Rimrodt, J. R. Abel, J. G. Blankner, S. H. Mostofsky, J. J. Pekar & M. B. Denckla, Sex differences in cerebral laterality of language and visuospatial processing. Brain and Language (Elsevier) 98.2 (2006), 150–158.07–374Fiebach, Christian J. (U California, Berkeley, USA; [email protected]), Jesse Rissman & Mark D'Esposito, Modulation of inferotemporal cortex activation during verbal working memory maintenance. Neuron (Cell Press) 51.2 (2006), 251–261.07–375Kobayashi, Chiyoko (Cornell U, New York, USA; [email protected]), Gary H. Glover & Elise Temple, Cultural and linguistic influence on neural bases of ‘Theory of Mind’: An fMRI study with Japanese bilinguals. Brain and Language (Elsevier) 98.2 (2006), 210–220.07–376Xue, Gui, Chuansheng Chen, Zhen Jin & Qi Dong (Beijing Normal U, Beijing, China; [email protected]), Cerebral asymmetry in the fusiform areas predicted the efficiency of learning a new writing system. Journal of Cognitive Neuroscience (MIT Press) 18.6 (2006), 923–931.