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Judith Miller

Publications and source records attributed to Judith Miller.

15 recordsLinked to original sources
PubMed2006

Evidence for linkage on chromosome 3q25-27 in a large autism extended pedigree.

Though autism shows strong evidence for genetic etiology, specific genes have not yet been found. We tested for linkage in a candidate region on chromosome 3q25-27 first identified in Finnish autism families [1]. The peak in this previous study was at D3S3037 (183.9 cM). We tested this region in seven affected family members and 24 of their relatives from a single large extended Utah pedigree of Northern European ancestry. A total of 70 single nucleotide polymorphisms (SNPs) were analyzed from 165 to 204 cM. The maximum NPL-all nonparametric score using SimWalk2snp was 3.53 (empirical p val ue = 0.0003) at 185.2 cM (SNP rs1402229), close to the Finnish peak. A secondary analysis using MCLINK supported this result, with a maximum of 3.92 at 184.6 cM (SNP rs1362645). We tested for alterations in a candidate gene in this region, the fragile X autosomal homolog, FXR1. No variants likely to contribute to autism were found in the coding sequence, exon-intron boundaries, or the promoter region of this gene.

Adolescent↗
PubMed2005

Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2).

We report a possible association between autism in our sample and a recently described brain-expressed tryptophan hydroxylase gene (TPH2). The well-replicated involvement of the serotonin neurotransmitter system in autism has stimulated interest in many genes in the serotonin pathway as possible candidates for mutations leading to autism susceptibility. Serotonin synthesis is controlled by the rate-limiting enzyme tryptophan hydroxylase. A mouse study of the original tryptophan hydroxylase gene (TPH1) and the new isoform (TPH2) showed that while TPH1 is primarily expressed peripherally, TPH2 is found exclusively in brain tissue. We searched for human sequence variants in 6,467 nucleotides covering all 11 exons of TPH2, and also 248 nucleotides upstream of the start codon, and 935 nucleotides downstream of the stop codon. Eighteen variants were characterized in 88 subjects with autism studied at our two centers, and 95 unrelated control subjects. Using a model-free association method and empirical P value estimation, two variants showed frequency differences between autism and control subjects (P = 0.01 for a T-G variant in intron 1, and P = 0.02 for a A-T variant in intron 4). A haplotype including these variants showed slightly increased significance (P = 0.005). Further investigation of clinical phenotypes showed a possible association between presence of the variants at these two SNPs and higher scores on the Autism Diagnostic Interview (ADI) domain describing repetitive and stereotyped behaviors (P = 0.007). We conclude that TPH2 may play a modest role in autism susceptibility, perhaps relating specifically to repetitive behaviors, pending replication of this result.

Autistic Disorder↗
PubMedDate not supplied

Attitudes toward nurse practitioner-led chronic disease management to improve outpatient quality of care.

To understand the acceptability for a model of chronic disease management, in which primary care patients see nurse practitioners for structured visits using an evidence-based encounter form, the authors sent a mailed survey to primary care physicians and nurse practitioners. A total of 212 subjects completed the survey, for a total response rate of 53% (physicians, 44%; nurse practitioners, 61%). Most physicians (79.5%) reported that nurse practitioners saw patients in their practice. Most physicians (80.0%) and nurse practitioners (95.7%) believed that the proposed model of care would improve the control of chronic illnesses. In addition, most physicians (73.8%) and nurse practitioners (87.6%) believed that the model of care would be of interest to similar providers. Overall, the high level of support for the model and the presence of nurse practitioners in most physician offices suggests that future studies are warranted to understand how best to implement this.

Attitude of Health Personnel↗