Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.

OBJECTIVE: Metachromatic leukodystrophy (MLD) is a rare neurodegenerative disorder. Emerging therapies are most effective in the presymptomatic phase, and thus defining this window is critical. We hypothesize that early development delay may precede developmental plateau. With the advent of presymptomatic screening platforms and transformative therapies, it is essential to define the onset of neurologic disease. METHODS: The specific ages of gain and loss of developmental milestones were captured from the medical records of individuals affected by MLD. Milestone acquisition was characterized as: on target (obtained before the age limit of 90th percentile plus 2 standard deviations compared to a normative dataset), delayed (obtained after 90th percentile plus 2 standard deviations), or plateau (skills never gained). Regression was defined as the age at which skills were lost. LI-MLD was defined by age at onset before 2.5 years. RESULTS: Across an international cohort, 351 subjects were included (n = 194 LI-MLD subcohort). The median age at presentation of the LI-MLD cohort was 1.4 years (25th-75th %ile: 1.0-1.5). Within the LI-MLD cohort, 75/194 (39%) had developmental delay (or plateau) prior to MLD clinical presentation. Among the LI-MLD cohort with a minimum of 1.5 years of follow-up (n = 187), 73 (39.0%) subjects never attained independent ambulation. Within LI-MLD + delay subcohort, the median time between first missed milestone target to MLD decline was 0.60 years (maximum distance from delay to onset: 1.9 years). INTERPRETATION: Early developmental delay precedes regression in a subset of children affected by LI-MLD, defining the onset of neurologic dysfunction earlier than previously appreciated. The use of realworld data prior to diagnosis revealed an early deviation from typical development. Close monitoring for early developmental delay in presymptomatic individuals may help in earlier diagnosis with important consequences for treatment decisions.

Characteristics of immigrant Latino men who utilize formal healthcare services: baseline findings from the HoMBReS study.

Despite the burgeoning immigrant Hispanic/Latino community in the southeastern United States, little is known about the utilization of healthcare services by this population. We sought to identify demographic, behavioral and psychosocial characteristics of immigrant Hispanic/Latino men who report utilizing formal healthcare services. Using an interviewer-administered assessment, data were collected from a random sample of members of a multicounty adult Latino men's soccer league in North Carolina. Of the 222 participants, the mean (+/-SD) age was 29.8 +/-8.3, with a range of 18-71 years. More than half of the sample reported Mexico as their country of origin and grade < or =8 as their highest level of education. The mean length of time living in the United States was 8.8 (+/- 7.6) years. An increased likelihood of reporting having ever utilized formal healthcare services associated with decreased perceived barriers to utilization, increased acculturation, increased adherence to traditional notions of masculinity and increased coping. Effective strategies to increase the utilization of formal healthcare services among Hispanic/Latino men may include diffusing information about the availability of services and how to access services and linking healthcare utilization with positive aspects of what it means to be a man.

Condom use among heterosexual immigrant Latino men in the southeastern United States.

Latinos in the United States have been disproportionately affected by the intersecting epidemics of HIV and sexually transmitted diseases (STDs). We examined correlates of condom use among adult heterosexual Latino men who are members of a large multicounty soccer league in rural North Carolina. Of 222 participants, the mean (+/-SD) age was 29.8 (+/-8.3) years. Approximately 60% reported Mexico as their country of origin, 60% reported Grade 8 or below as their highest level of education, and 50% reported using condoms during their most recent vaginal intercourse episodes. Adjusting for relationship status, multivariable logistic regression identified four correlates of condom use: having sought health care information from family members (adjusted odds ratio [AOR]=3.68; 95% confidence interval [CI]=1.48-9.13); greater knowledge of HIV transmission and prevention (AOR = 2.61; CI = 1.23-5.54); greater condom use self-efficacy (AOR = 4.45; 95% CI = 2.12-9.36); and greater adherence to traditional masculine norms (AOR = 2.10; 95% CI = 1.02-4.33). Our findings underscore the need for innovative and targeted HIV and STD prevention programming among the emerging Latino community in the southeastern United States.

The kinematic and kinetic effects of solid, hinged, and no ankle-foot orthoses on stair locomotion in healthy adults.

This study compared the effects of a unilateral solid ankle-foot orthosis (AFO), hinged AFO and no AFO (shoe) worn by healthy adults on pelvic angles, lower extremity joint angles, moments and powers, and temporal-spatial gait characteristics during stair locomotion. A convenience sample of 19 healthy adults participated in this repeated measures design with subjects serving as their own controls. Subjects ambulated on stairs wearing a left shoe and either a right solid AFO, hinged AFO or shoe. Kinematic and kinetic data were collected with motion analysis equipment and a force plate for the three conditions. Pelvic angles and right hip, knee and ankle angles, moments and powers during stance were compared to determine differences among the conditions. Subjects wearing either orthosis walked slower during stair locomotion and with a shorter right single limb support time during descent. Sagittal knee and ankle angles, moments and powers were similar in individuals wearing a hinged AFO or shoe during pull-up (PU) in ascent and controlled lowering (CL) in descent. Decreased ankle dorsiflexion angle, plantar flexion power, knee flexion angle and extensor moment were seen in subjects wearing a solid AFO as compared to a hinged AFO during PU in ascent and CL in descent. Findings contributed to understanding how biomechanical changes imposed at the ankle by a unilateral solid AFO resulted in more kinetic and kinematic compensations than the hinged AFO in healthy adults without the confounding effects of neuromuscular impairments.