Incidence of Celiac Disease in Down Syndrome: A Longitudinal, Population-Based Birth Cohort Study.

American Academy of Pediatrics (AAP) guidelines for children with Down syndrome (DS) include assessment for celiac disease (CD), although data to support this recommendation have been inconsistent. We determined the incidence of CD among children with DS in a population-based birth cohort of children born from 1976 to 2000 in Olmsted County, Minnesota. Individuals with karyotype-confirmed DS and CD (using diagnosis codes, positive serology, and duodenal biopsies) were identified. The incidence of CD in DS was compared with the published incidence of CD for Olmsted County residents (17.4 [95% confidence interval = 15.2-19.6] per 100 000 person-years). Among 45 individuals with DS from the birth cohort, 3 (6.7%) were identified with positive celiac serology and confirmatory biopsies at ages 9, 12, and 23 years, for an incidence of 325 per 100 000 person-years. Thus, individuals with DS have more than 18 times the incidence rate of CD compared with the general population, supporting the AAP guidelines.

Autism Spectrum Disorder: Incidence and Time Trends Over Two Decades in a Population-Based Birth Cohort.

We retrospectively identified autism spectrum disorder (ASD) incident cases among 31,220 individuals in a population-based birth cohort based on signs and symptoms uniformly abstracted from medical and educational records. Inclusive and narrow research definitions of ASD (ASD-RI and ASD-RN, respectively) were explored, along with clinical diagnoses of ASD (ASD-C) obtained from the records. The incidence of ASD-RI, ASD-RN, and ASD-C increased significantly from 1985 to 1998, then ASD-RI and ASD-RN plateaued while the rate of ASD-C continued to increase during 1998-2004. The rising incidence of research-defined ASD may reflect improved recognition and documentation of ASD signs and symptoms. Although the frequency of threshold ASD symptoms stabilized, the rate of ASD-C continued to increase, narrowing the gap between clinical ascertainment and symptom documentation.

What can large population-based birth cohort study ask about past, present and future of children with disorders of development, learning and behaviour?

A large cohort consisting of all children born to mothers from community provides 'natural' selection into different exposures and is a powerful resource for epidemiological research. A large population-based birth cohort with detailed systematic information already recorded, as part of longitudinal medical care, historical and current school data, detailed birth certificate data and all three resources available for every member of the birth cohort, are extremely rare. Our population-based birth cohort consists of all children born between 1976 and 2000 to mothers residing in Olmsted County, Minnesota, at the time of child's birth (N=39 890). In this paper, we provide a comprehensive report of the method describing the identification, the characteristics and longitudinal follow-up of each child (and family members) from the birth cohort, wealth of complementary resources of data and study measures and designs (retrospective, combined retrospective/prospective). In the last decade or so, we obtained scientific and clinically needed answers for incidence rates, potential risk/protective factors, treatment, comorbidities, outcomes, cost/usage and potential biases (that are always assessed and clinically interpreted) of many developmental learning and behavioural disorders (DLBDs) including learning and attention-deficit/hyperactivity disorders, intellectual disability, speech-language impairment and autism spectrum disorder. Many current and future questions related to DLBDs are remaining to be answered. The Olmsted County Birth Cohort (OCBC) is an example of a comprehensive, contemporary epidemiological research model for the development of similar research infrastructures, and its current and future results are important for replication and comparison with other population-based retrospective and prospective birth cohort studies.

Early speech-language impairment and risk for written language disorder: a population-based study.

OBJECTIVE: To compare risk of written language disorder (WLD) in children with and without speech-language impairment (S/LI) from a population-based cohort. METHODS: Subjects included all children born between 1976 and 1982 in Rochester, Minnesota, who remained in the community after age 5 years (n = 5718). Records from public and private schools, medical agencies, and tutoring services were abstracted. S/LI was determined based on eligibility criteria for an individualized education plan. Incident cases of WLD were identified by research criteria using regression-based discrepancy, non-regression-based discrepancy, and low-achievement formulas applied to cognitive and academic achievement tests. Incidence of WLD (with or without reading disorder [RD]) was compared between children with and without S/LI. Associations were summarized using hazard ratios. RESULTS: Cumulative incidence of WLD by age 19 years was significantly higher in children with S/LI than in children without S/LI. The magnitude of association between S/LI and WLD with RD was significantly higher for girls than for boys. This was not true for the association between S/LI and WLD without RD. CONCLUSIONS: Risk for WLD is significantly increased among children with S/LI compared with children without S/LI based on this population-based cohort. Early identification and intervention for children at risk for WLD could potentially influence academic outcomes.

A motor speech assessment for children with severe speech disorders: reliability and validity evidence.

PURPOSE: In this article, the authors report reliability and validity evidence for the Dynamic Evaluation of Motor Speech Skill (DEMSS), a new test that uses dynamic assessment to aid in the differential diagnosis of childhood apraxia of speech (CAS). METHOD: Participants were 81 children between 36 and 79 months of age who were referred to the Mayo Clinic for diagnosis of speech sound disorders. Children were given the DEMSS and a standard speech and language test battery as part of routine evaluations. Subsequently, intrajudge, interjudge, and test-retest reliability were evaluated for a subset of participants. Construct validity was explored for all 81 participants through the use of agglomerative cluster analysis, sensitivity measures, and likelihood ratios. RESULTS: The mean percentage of agreement for 171 judgments was 89% for test-retest reliability, 89% for intrajudge reliability, and 91% for interjudge reliability. Agglomerative hierarchical cluster analysis showed that total DEMSS scores largely differentiated clusters of children with CAS vs. mild CAS vs. other speech disorders. Positive and negative likelihood ratios and measures of sensitivity and specificity suggested that the DEMSS does not overdiagnose CAS but sometimes fails to identify children with CAS. CONCLUSIONS: The value of the DEMSS in differential diagnosis of severe speech impairments was supported on the basis of evidence of reliability and validity.

Swallow function in patients before and after intra-arterial chemoradiation.

OBJECTIVES/HYPOTHESIS: To prospectively evaluate swallow function in patients with advanced head and neck cancer before and after completion of intra-arterial chemoradiation therapy and planned neck dissection. STUDY DESIGN: Prospective nonrandomized study. METHODS Swallow function was evaluated in 11 patients with resectable T4 and selected T3 head and neck cancer before and, on average, 19 weeks after completion of treatment. RESULTS: The Performance Status Scale demonstrated worse scores for both eating in public (P =.004) and normalcy of diet (P =.004) after treatment. Patients who underwent neck dissections had significantly worse scores (P =.02) in normalcy of diet. A significant decline was noted in swallowing functional measures at the time of the repeat evaluation (P =.02). Videofluoroscopic swallow studies revealed altered swallow function in 9 of 11 patients before treatment, with aspiration seen in 3 patients. Following treatment, the incidence of aspiration increased to seven patients. Tongue base retraction, reduced laryngeal elevation, and increased laryngeal vestibule penetration of thick liquid were all statistically significantly worse after treatment. The overall score on the quality of life instrument was not significantly changed from before to after treatment. CONCLUSIONS: The majority of patients demonstrated significantly worse swallow function on all three methods of analysis at 19 weeks after completion of treatment. Continued detailed monitoring of patients' swallow function is critical in determining long-term effects of intra-arterial chemoradiation therapy and neck dissection.