Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

The ultimate objective of newborn screening for sickle cell disease should be twofold. The first essential step is the identification of the infants at risk. This has been effectively done in New York state as of 1975 through the New York State Newborn Screening Program. However, identifying these children is not enough. Second is the much more complicated task of providing comprehensive follow-up care for families whose children are affected by the disease, including the much needed psychosocial services. This area continues to be sorely neglected. The increased risk of death due to overwhelming infection in the first 3 years of life for children with sickle cell disease has been noted in the literature. When there is no specialized care, 15% to 20% do not survive. Therefore, it is essential for knowledgeable staff to make contact and begin to develop a trusting relationship as soon as possible with parents of infants born with sickle cell disease. Prophylactic penicillin and pneumococcal vaccination can reduce mortality during the early years. Family involvement with a consistent, available team of health care providers is pivotal in understanding this chronic illness and coping effectively with this extraordinary stress. Our staff is available by telephone for consultations with patients or other medical staff during clinic and emergency room visits and hospitalizations. One element that is clear in our experience at the St Luke's-Roosevelt Hospital Sickle Cell Center in New York City is that adjustment to this chronic illness is a lifelong process. One or two counseling sessions at the time of diagnosis are not sufficient to enable families to fully understand the information given or to realize the impact of having a child with a chronic illness.

Download Full-text

Newborn screening for Pompe disease in New York state: Results from 6 year single center experience

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2019.11.125 ◽

2020 ◽

Vol 129 (2) ◽

pp. S55

Author(s):

Luca Fierro ◽

Amy C. Yang ◽

Natasha Zeid ◽

Jaya Ganesh

Keyword(s):

New York ◽

Newborn Screening ◽

Pompe Disease ◽

New York State ◽

Single Center ◽

York State ◽

Single Center Experience

Download Full-text

Infertility treatment and autism risk using the Modified Checklist for Autism in Toddlers (M-CHAT)

Human Reproduction ◽

10.1093/humrep/dez298 ◽

2020 ◽

Vol 35 (3) ◽

pp. 684-693 ◽

Cited By ~ 1

Author(s):

S L Robinson ◽

T Parikh ◽

T Lin ◽

E M Bell ◽

E Heisler ◽

...

Keyword(s):

New York ◽

Study Design ◽

Screening Tool ◽

New York State ◽

Population Based ◽

Infertility Treatment ◽

Autism Spectrum ◽

Fertility Treatment ◽

York State

Abstract STUDY QUESTION Are toddlers conceived by fertility treatment at higher risk of failing a screening tool for autism spectrum disorders (ASD) than toddlers not conceived by treatment? SUMMARY ANSWER Compared with children not conceived by infertility treatment, children conceived by any infertility treatment, ovulation induction with or without intrauterine insemination (OI/IUI), or assisted reproductive technologies (ART) appeared to have had higher odds of failing an ASD screening; however, results were inconclusive and need replication. WHAT IS KNOWN ALREADY Although most of the studies which have examined risk of ASD after ART show no association, the results are mixed. Thus, further studies are needed to clarify this association. STUDY DESIGN SIZE, DURATION The Upstate KIDS Study is a population-based, prospective cohort study of children born in New York State between 2008 and 2010. Children were screened for ASD using the Modified Checklist for Autism in Toddlers (M-CHAT) at ages 18 and 24 months. PARTICIPANTS/MATERIALS, SETTING, AND METHODS The New York State live-birth registry was used to identify newborns conceived with and without fertility treatment with a 1:3 ratio, frequency matched on region of birth. At 18 and 24 months, 3183 and 3063 mothers, respectively, completed the M-CHAT questionnaire. The current analysis included 2586 singletons and 1296 twins with M-CHAT information at 18 and/or 24 months. Multivariable logistic regression with generalized estimating equations (GEE) was used to estimate odds ratios (aOR) and 95% confidence intervals (CI) after adjustment for covariates such as maternal age, education and plurality. MAIN RESULTS AND THE ROLE OF CHANCE We found that 200 (5.2%) and 115 (3.0%) children failed the M-CHAT at 18 and 24 months, respectively. The associations between use of infertility treatment and failing the M-CHAT at 18 and/or 24 months were positive but inconclusive as they failed to exclude no association (18 months aOR 1.71, 95% CI: 0.81–3.61; 24 months aOR 1.78, 95% CI: 0.66–4.81; and both 18 and 24 months aOR 1.53, 95% CI: 0.78–2.99). The relationships between OI/IUI and ART with M-CHAT failure at 18 and/or 24 months were similar to those of using any fertility treatment. In vitro fertilization with intracytoplasmic sperm injection was not consistently positively or inversely associated with M-CHAT failure at each time point (18 months aOR 1.20, 95% CI: 0.51–2.83; 24 months aOR 0.93, 95% CI: 0.37–2.31; and both 18 and 24 months aOR 1.09, 95% CI: 0.50–2.60). LIMITATIONS REASONS FOR CAUTION The M-CHAT is a screening tool used for ASD risk assessment, and therefore, M-CHAT failure does not indicate ASD diagnosis. In addition, we did not have power to detect associations of small magnitude. Finally, non-response to follow-up may bias the results. WIDER IMPLICATIONS OF THE FINDINGS Despite lack of precision, the positive associations between ART and M-CHAT failure suggest that larger population-based studies with longer follow-up are needed. STUDY FUNDING/COMPETING INTEREST(S) Supported by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD; contracts HHSN275201200005C, HHSN267200700019C). The sponsor played no role in the study design, data collection, data analysis or interpretation, writing of the manuscript or decision to submit the article for publication. There are no conflicts of interest to declare. TRIAL REGISTRATION NUMBER Not applicable.

Download Full-text

Forward-Lighting Configurations for Snowplows

Transportation Research Record Journal of the Transportation Research Board ◽

10.1177/0361198196153300109 ◽

1996 ◽

Vol 1533 (1) ◽

pp. 59-66 ◽

Cited By ~ 1

Author(s):

Peter Bajorski ◽

Suman Dhar ◽

Deniz Sandhu

Keyword(s):

New York ◽

Pilot Study ◽

New York State ◽

Reliable Data ◽

Statistical Methodology ◽

Methodological Issues ◽

York State ◽

Front End ◽

Ice Control ◽

Snow And Ice

Snow and ice control is a critical maintenance operation for New York State: each winter, up to 68 500 km (42,500 lane-mi) of highways must be cleared. Visibility during plowing operations is often poor and is further diminished by backscatter glare from the snowplow's own headlights as well as glare from lights of oncoming traffic. Results are summarized of a pilot study to identify forward (front-end) lighting configurations that might improve visibility for plow operators during such operations. During the 1993–1994 winter, eight lighting configurations were tested, two of which were identified as potential improvements over the existing pattern. Simple procedures and forms were developed for collecting reliable data. Methodological issues in performing such experiments are discussed. A statistical methodology is presented that is suitable for comparison of lighting configurations but is also applicable in other, broader contexts in which a number of items are compared by several evaluators.

Download Full-text