Objective: The purpose of this study was to assess the effectiveness of a new manualized group Meta-Cognitive Therapy (MCT) for adults with ADHD that extends the principles and practices of ...cognitive-behavioral therapy to the development of executive self-management skills. Method: Thirty adults diagnosed with ADHD completed an 8- or 12-week program designed to target impairments in time management, organization, and planning skills. Treatment efficacy was measured using pre- and posttreatment self-report standardized measures (CAARS-S:L & Brown ADD Scales). Results: General linear modeling revealed a robust significant posttreatment decline on the CAARS DSM-IV Inattentive symptom scale (p < .001) as well as improvement on the Brown ADD Scales (p < .001). Conclusion: The findings indicate that participants in the MCT program showed marked improvement with respect to core ADHD symptoms of inattention, as well as executive functioning skills, suggesting that this program has promise as a treatment for meta-cognitive deficits in adults with ADHD. (J. of Att. Dis. 2008; 11(6) 728-736)
To evaluate findings at radiography, computed tomography (CT), and pulmonary function testing in patients with type B Niemann-Pick disease.
The study was approved by the institutional review board or ...ethics committee at each study site and was compliant with HIPAA at the U.S. site. Written informed consent was obtained from each patient or guardian and minor assent was obtained from all children before any study-related procedures. Pulmonary involvement in 53 patients (27 male and 26 female patients; age range, 7-65 years; mean age, 23.3 years) with type B Niemann-Pick disease was evaluated with imaging and pulmonary function tests. All patients underwent chest radiography and thin-section CT, and images were independently interpreted by one of two radiologists. Spirometry (forced vital capacity FVC and forced expiratory volume in 1 second FEV1) was performed and diffusing capacity of lung for carbon monoxide (Dlco) was evaluated in all patients who could comply. A score for the degree of interstitial lung disease was derived at both radiography and CT, and the CT scores were then compared with results of pulmonary function testing and patient age by means of linear regression. CT scores were compared between the upper and lower lung zones by using the Wilcoxon signed rank test.
Chest radiography and CT, respectively, revealed interstitial lung disease in 47 (90%) and 51 (98%) of the 52 patients who completed both imaging examinations. There was a basilar predominance of interstitial lung disease at CT. Six patients had pulmonary nodules, one of which was calcified at chest radiography. There were no statistically significant correlations between interstitial lung disease score at CT and age or percentage predicted FVC, FEV1, or Dlco values.
Although pulmonary function test indexes may be abnormal, imaging findings do not necessarily correlate with pulmonary function in patients with type B Niemann-Pick disease.
To characterize the lipid profiles in patients with types A and B Niemann Pick disease (NPD) and determine if lipid abnormalities are associated with evidence of early cardiovascular disease or ...correlate with genotype.
The study was a cross-sectional analysis of 10 patients with NPD type A and 30 patients with NPD type B that was carried out in the General Clinical Research Center. For each patient, fasting lipid profile and glucose, T4, height or length, weight, resting blood pressure, and acid sphingomyelinase deficiency genotype were measured. In type B patients, electrocardiograhic-gated helical computed tomography of the heart also was obtained.
Lipid abnormalities included low (<35 mg/dL) high-density lipoprotein cholesterol in 100% of patients and hypertriglyceridemia and increased low-density lipoprotein cholesterol in 62% (25/40) and 67% (27/40) of patients, respectively. Coronary artery calcium scores were positive (>1.0) in 10 of 18 type B patients studied. There was no correlation of the ΔR608 genotype with a milder phenotype for the lipid abnormalities, as has been observed for a number of other NPD manifestations.
Lipid abnormalities are part of the phenotype in types A and B NPD and may be associated with early atherosclerotic heart disease.
Glycogen storage disease type IX (GSD IX) is described as a benign condition that often does not require treatment. Most patients with the disease are thought to outgrow the childhood manifestations, ...which include hepatomegaly, poor growth, and ketosis with or without hypoglycemia. Long term complications including fibrosis and cirrhosis have seldom been reported in the most common subtype, GSD IXα. We present two cases of children with GSD IXα who had fibrosis at the time of diagnosis in addition to the commonly reported disease manifestations. Structured therapy with frequent doses of uncooked cornstarch and protein supplementation was initiated, and both children responded with improved growth velocity, increased energy, decreased hepatomegaly and improved well-being. Additionally, radiographic features of fibrosis improved. We propose that GSD IXα is not a benign condition. Even in patients with a less severe presentation, consideration of a structured treatment regimen to improve quality of life appears warranted.
•Patients with a severe GSD IX alpha are described.•Aggressive treatment resulted in the improvement of hepatic fibrosis.•Improved growth velocity and quality of life also occurred with treatment.•GSD IX alpha should not be considered a benign disorder.•Aggressive therapy for all patients with GSD IX is warranted.
The purpose of this article is to illustrate the various imaging manifestations of Niemann-Pick disease type B using various imaging techniques emphasizing cross-sectional imaging.
Niemann-Pick ...disease type B is a multisystem disease that affects the pulmonary, cardiovascular, abdominal, and skeletal systems. Cross-sectional imaging is well suited for detecting and assessing the various manifestations of this disease, which can be highly suggestive of the diagnosis when seen in combination.
Introduction: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common inborn errors of metabolism. Affected patients have impaired ability to break down medium chain fatty ...acids during fasting, and typically present in the early years of life with hypoketotic hypoglycemia, Reye syndrome-like symptoms, brain damage or death. The development of newborn screening (NBS) for MCAD deficiency has greatly improved outcome, but some patients still appear at risk for severe complications. We reviewed the outcome of patients identified with MCAD deficiency by the New York State NBS process to identify biochemical or genotypic markers which might predict outcome. Method: All eight NBS follow-up centers in New York State contributed the cases of MCAD deficiency diagnosed by newborn screen, who received diagnostic and follow-up care in their clinic. Data reviewed included gender, age, birthweight, initial NBS octanoylcarnitine level (C8) and C8/C2 ratio, follow-up C8 and hexanoylglycine, race/ethnicity, and presence of neonatal or later symptoms. Results: We identified 53 cases of MCAD deficiency. More than one quarter of patients had a post-neonatal symptomatic admission (predominantly lethargy associated with an intercurrent illness). No genotype or C8 level was protective for neonatal or later symptoms. There was a relationship between initial C8 level or C8/C2 ratio and occurrence of later symptoms (7.3μmol/L in the asymptomatic vs. 19.1μmol/L in the symptomatic, p<0.0002 for C8, and 0.26 vs. 0.6, respectively, for C8/C2 ratio, p<0.012). Four infants had initial C8 level >30μmol/L; these infants had a high rate of symptomatic or multiple symptomatic episodes or a history of sibling death from “SIDS”, and typically had deletion, nonsense or splice sites mutations. Infants having a history of a symptomatic episode were more likely to have higher initial C8 on NBS and a genotype predicted to strongly affect protein function. In our ethnically diverse group of patients, the c.985A>G mutation was rarely found in non-Caucasians. Discussion: No genotype or metabolite profile is protective from symptoms. The strong relationship between initial C8 level and outcome suggests that in at least some cases neonates having high initial C8 levels may be demonstrating an increased susceptibility to catabolic stress, and may merit additional precautions. Our data also suggest that these infants are more likely to carry severe mutations including homozygosity for the common mutation, deletions, nonsense or splice site mutations. The reports of significant lethargy or hypoglycemia during intercurrent illness in over one quarter of cases even when early medical intervention is recommended (and even when initial C8 is not profoundly elevated) underscores the importance of continued vigilance to prevent stressful fasting in this disorder.
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