Co-occurring conditions in Down syndrome: Findings from a clinical database.

Individuals with Down syndrome (DS) experience a range of medical and neurodevelopmental conditions, necessitating systematic study of their occurrence and impact on neurodevelopmental outcomes. We describe the prevalence and relationships of medical, neurodevelopmental (ND), and mental health (MH) conditions in children with DS. We created a prospective clinical database of individuals with DS, integrated into the workflow of a specialty Down Syndrome Program at a specialty pediatric referral hospital. Conditions were collected through caregiver- and clinician report at clinical visits (N = 599). We calculated frequencies of medical, ND, and MH conditions and then assessed the relationship between medical, ND, and MH conditions using frequencies and comparative statistics. The most frequent co-occurring conditions were vision (72.5%), ear/hearing (71.0%), gastrointestinal (61.3%), respiratory (45.6%), and feeding (33.6%) problems, with variation in frequency by age. ND and MH conditions were reported in one quarter, most commonly autism spectrum disorder and attention-deficit/hyperactivity disorder. Those with ND and MH conditions had greater frequency of medical conditions, with highest rates of vision, ear/hearing, and gastrointestinal issues, and CHD. Systematically collected clinical data in a large cohort of children with DS reveals high prevalence of several co-occurring medical, ND, and MH conditions. Clinical care requires an understanding of the complex relationship between medical conditions and neurodevelopment.

Chondral Injury Associated With ACL Injury: Assessing Progressive Chondral Degeneration With Morphologic and Quantitative MRI Techniques.

BACKGROUND: Anterior cruciate ligament (ACL) injuries are associated with a risk of post-traumatic osteoarthritis due to chondral damage. Magnetic resonance imaging (MRI) techniques provide excellent visualization and assessment of cartilage and can detect subtle and early chondral damage. This is often preceding clinical and radiographic post-traumatic osteoarthritis. HYPOTHESIS: Morphologic and quantitative MRI techniques can assess early and progressive degenerative chondral changes after acute ACL injury. STUDY DESIGN: Prospective longitudinal cohort. LEVEL OF EVIDENCE: Level 3. METHODS: Sixty-five participants with acute unilateral ACL injuries underwent bilateral knee MRI scans within 1 month of injury. Fifty-seven participants presented at 6 months, while 54 were evaluated at 12 months. MRI morphologic evaluation using a modified Noyes score assessed cartilage signal alteration, chondral damage, and subchondral bone status. Quantitative T1ρ and T2 mapping at standardized anatomic locations in both knees was assessed. Participant-reported outcomes at follow-up time points were recorded. RESULTS: Baseline Noyes scores of MRI detectable cartilage damage were highest in the injured knee lateral tibial plateau (mean 2.5, standard error (SE) 0.20, P < 0.01), followed by lateral femoral condyle (mean 2.1, SE 0.18, P < 0.01), which progressed after 1 year. Longitudinal prolongation at 12 months in the injured knees was significant for T1ρ affecting the medial and lateral femoral condyles (P < 0.01) and trochlea (P < 0.01), whereas T2 values were prolonged for medial and lateral femoral condyles (P < 0.01) and trochlea (P < 0.01). The contralateral noninjured knees also demonstrated T1ρ and T2 prolongation in the medial and lateral compartment chondral subdivisions. Progressive chondral damage occurred despite improved patient-reported outcomes. CONCLUSION: After ACL injury, initial and sustained chondral damage predominantly affects the lateral tibiofemoral compartment, but longitudinal chondral degeneration also occurred in other compartments of the injured and contralateral knee. CLINICAL RELEVANCE: Early identification of chondral degeneration post-ACL injury using morphological and quantitative MRI techniques could enable interventions to be implemented early to prevent or delay PTOA.

Combined femoral and acetabular version and synovitis are associated with dGEMRIC scores in people with femoroacetabular impingement (FAI) syndrome.

This study sought to explore, in people with symptoms, signs and imaging findings of femoroacetabular impingement (FAI syndrome): (1) whether more severe labral damage, synovitis, bone marrow lesions, or subchondral cysts assessed on magnetic resonance imaging (MRI) were associated with poorer cartilage health, and (2) whether abnormal femoral, acetabular, and/or combined femoral and acetabular versions were associated with poorer cartilage health. This cross-sectional study used baseline data from the 50 participants with FAI syndrome in the Australian FASHIoN trial (ACTRN12615001177549) with available dGEMRIC scans. Cartilage health was measured using delayed gadolinium-enhanced MRI of cartilage (dGEMRIC) score sampled at the chondrolabral junction on three midsagittal slices, at one acetabular and one femoral head region of interest on each slice, and MRI features were assessed using the Hip Osteoarthritis MRI Score. Analyses were adjusted for alpha angle and body mass index, which are known to affect dGEMRIC score. Linear regression assessed the relationship with the dGEMRIC score of (i) selected MRI features, and (ii) femoral, acetabular, and combined femoral and acetabular versions. Hips with more severe synovitis had worse dGEMRIC scores (partial η2 = 0.167, p = 0.020), whereas other MRI features were not associated. A lower combined femoral and acetabular version was associated with a better dGEMRIC score (partial η2 = 0.164, p = 0.021), whereas isolated measures of femoral and acetabular version were not associated. In conclusion, worse synovitis was associated with poorer cartilage health, suggesting synovium and cartilage may be linked to the pathogenesis of FAI syndrome. A lower combined femoral and acetabular version appears to be protective of cartilage health at the chondrolabral junction.

Brachial Plexus Magnetic Resonance Neurography: Technical Challenges and Solutions.

ABSTRACT: Magnetic resonance neurography of the brachial plexus (BP) is challenging owing to its complex anatomy and technical obstacles around this anatomic region. Magnetic resonance techniques to improve image quality center around increasing nerve-to-background contrast ratio and mitigating imaging artifacts. General considerations include unilateral imaging of the BP at 3.0 T, appropriate selection and placement of surface coils, and optimization of pulse sequences. Technical considerations to improve nerve conspicuity include fat, vascular, and respiratory artifact suppression techniques; metal artifact reduction techniques; and 3-dimensional sequences. Specific optimization of these techniques for BP magnetic resonance neurography greatly improves image quality and diagnostic confidence to help guide nonoperative and operative management.

Development and implementation of a longitudinal clinical database for down syndrome in a large pediatric specialty clinic: Methodology and feasibility.

Down syndrome (DS) is a complex condition associated with multiple medical, developmental, and behavioral concerns. A prospective, longitudinal clinical database was integrated into a specialty Down Syndrome Program, with the goals of better understanding the incidence, course, and impact of co-occurring medical, neurodevelopmental, and mental health conditions in DS. We describe the process of developing the database, including a systematic approach to data collection and database infrastructure, and report on feasibility, challenges, and solutions of initial implementation. Between March 2018 and November 2021, data from 842 patients (ages 4.8 months to 26 years) was collected. Challenges included caregiver form completion as well as time and personnel required for successful implementation. With full integration into clinical visit flow, the database proved to be feasible. The database enables identification of patterns of development and health throughout the lifespan and it facilitates future data sharing and collaborative research to advance care.

Developmental Regression, Depression, and Psychosocial Stress in an Adolescent with Down Syndrome.

CASE: Kristen is a 13-year-old girl with Down syndrome (DS) who was seen urgently with concerns of cognitive and developmental regression including loss of language, social, and toileting skills. The evaluation in the DS clinic focused on potential medical diagnoses including atlantoaxial joint instability, vitamin deficiency, obstructive sleep apnea (OSA), and seizures. A comprehensive medical evaluation yielded only a finding of moderate OSA. A reactive depression was considered in association with several psychosocial factors including moving homes, entering puberty/onset of menses, and classroom change from an integrated setting to a self- contained classroom comprising unfamiliar peers with behavior challenges.Urgent referrals for psychological and psychiatric evaluations were initiated. Neuropsychological testing did not suggest true regression in cognitive, language, and academic skills, although decreases in motivation and performance were noted with a reaction to stress and multiple environmental changes as a potential causative factor. Psychiatry consultation supported this finding in that psychosocial stress temporally correlated with Kristen's regression in skills.Working collaboratively, the team determined that Kristen's presentation was consistent with a reactive form of depression (DSM-IV-TR: depressive disorder, not otherwise specified). Kristen's presentation was exacerbated by salient environmental stress and sleep apnea, rather than a cognitive regression associated with a medical cause. Treatment consisted of an antidepressant medication, continuous positive airway pressure for OSA, and increased psychosocial supports. Her school initiated a change in classroom placement. With this multimodal approach to evaluation and intervention, Kristen steadily improved and she returned to her baseline function.

Positive anterior margins in breast conserving surgery: Does it matter? A systematic review of the literature.

Positive margins are associated with an increased risk of ipsilateral breast tumor recurrence (IBTR); therefore re-excision of positive margins is recommended. Involvement of anatomically non-breast margins, such as anterior margins, has been associated to a lower risk of IBTR than radial margins. Although many surgeons do not re-excise positive anterior margins (PAM); there is no consensus regarding this approach. The objective of this study is to find evidence that assesses this practice. A systemic literature review was performed through six databases from January 1995 to July 2014. Studies that discussed anatomical location of involved margins in BCS were included. Six studies were identified evaluating PAM. One study reported a 2.5% rate of IBTR in patients with non-negative margins treated with radiotherapy (of which 23% had a PAM). Another study showed 4% of residual disease after re-excision of PAM, but did not report IBTR rates. A later observational study reported that 87.5% of positive anterior and posterior margins were re-excised. One survey from America and one from the UK showed that 47% and 71% of surgeons would not re-excise PAM, respectively. A later survey in the UK reported that 43.8% of surgeons would not re-excise PAM in DCIS, whilst 29.2% would not for invasive carcinoma. Common surgical practices to not re-excise PAM contradict current guidelines that recommend obtaining negative margins to reduce the risk of IBTR. However, there is little evidence detailing the relationship between PAM and IBTR rates. Low residual disease after re-excision of PAM supports the limited benefit of re-excise this margin; however further studies are required to evaluate this topic.

Supporting a happy, healthy adolescence for young people with Down syndrome and other intellectual disabilities: recommendations for clinicians.

PURPOSE OF REVIEW: To review clinical updates and current healthcare issues for adolescents with Down syndrome and intellectual disabilities, including behavioral, social, and emotional issues, health supervision recommendations, and recommendations for supporting the transition process. RECENT FINDINGS: Several recent findings merit particular attention: low activity levels and implications for overweight and poor bone density; high prevalence of obstructive sleep apnea and its implications; prevalence of mental health and behavioral concerns; and need for appropriate transition services. SUMMARY: In guiding adolescents with Down syndrome towards healthy productive adult lives, clinicians can make use of healthcare guidelines and should also take a broader, more interdisciplinary approach to ensure that social, educational, and vocational plans are in place to support physical and mental health and development during transition into adulthood. Many of these issues have broader applicability to any adolescent with an intellectual disability.

Developmental regression, depression, and psychosocial stress in an adolescent with Down syndrome.

CASE: Kristen is a 13-year-old girl with Down syndrome (DS) who was seen urgently with concerns of cognitive and developmental regression including loss of language, social, and toileting skills. The evaluation in the DS clinic focused on potential medical diagnoses including atlantoaxial joint instability, vitamin deficiency, obstructive sleep apnea (OSA), and seizures. A comprehensive medical evaluation yielded only a finding of moderate OSA. A reactive depression was considered in association with several psychosocial factors including moving homes, entering puberty/onset of menses, and classroom change from an integrated setting to a self-contained classroom comprising unfamiliar peers with behavior challenges.Urgent referrals for psychological and psychiatric evaluations were initiated. Neuropsychological testing did not suggest true regression in cognitive, language, and academic skills, although decreases in motivation and performance were noted with a reaction to stress and multiple environmental changes as a potential causative factor. Psychiatry consultation supported this finding in that psychosocial stress temporally correlated with Kristen's regression in skills.Working collaboratively, the team determined that Kristen's presentation was consistent with a reactive form of depression (DSM-IV-TR: depressive disorder, not otherwise specified). Kristen's presentation was exacerbated by salient environmental stress and sleep apnea, rather than a cognitive regression associated with a medical cause. Treatment consisted of an antidepressant medication, continuous positive airway pressure for OSA, and increased psychosocial supports. Her school initiated a change in classroom placement. With this multimodal approach to evaluation and intervention, Kristen steadily improved and she returned to her baseline function.

Generation 1.5--a different kind of millennial student.

Much attention has been paid to so-called "millennial students" in recent years, particularly regarding their relationship to technology, learning, and communication. Less notice has been taken of another kind of millennial student increasingly represented in our classrooms --those who were born in another country, but received a significant amount of their schooling here. Often referred to as Generation 1.5 because they have language characteristics in common with first- and second-generation immigrants, these bilingual students are a valuable resource for the physician assistant (PA) profession. However, just as teaching native-born millennial students may require some adjustment of instructional methods, Generation 1.5 students will require PA educators to pay closer attention to some aspects of teaching and learning. This article will discuss some of the particular challenges that Generation 1.5 students face and will argue that these challenges can be met in ways that are likely to help other nontraditional students as well.

Pediatric resident attitudes toward caring for children with severe disabilities.

OBJECTIVE: To survey pediatric residents' attitudes toward caring for children with severe disabilities. DESIGN: A cross-sectional survey of residents in a university-affiliated pediatric residency program between October and December 2005. Residents were asked to complete a newly designed, 13-item survey. For each item, participants selected the degree to which they did or did not agree with a statement about disabilities or caring for children with severe disabilities. RESULTS: Fifty-five (43%) of 129 eligible residents participated. Eighty-nine percent felt that caring for children with severe disabilities was as rewarding as caring for other children. Ninety-two percent felt that there is a societal responsibility to care for such children; 98% felt families of children with disabilities love their children as much as other families. Two-thirds (66%) admitted frustration related to caring for children who cannot be cured or function independently, and 71% questioned the aggressive treatment of such children. Residents in their second and third postgraduate years were more likely to question the aggressive treatment compared with their junior colleagues. CONCLUSIONS: Although pediatric residents had positive attitudes toward children with severe disabilities, emotional and moral tensions did arise around their care.

The Pediatric Alliance for Coordinated Care: evaluation of a medical home model.

OBJECTIVES: The American Academy of Pediatrics recommends a medical home for children with special health care needs (CSHCN). In the Pediatric Alliance for Coordinated Care (PACC), 6 pediatric practices introduced interventions to operationalize the medical home for CSHCN. The intervention consisted of a designated pediatric nurse practitioner acting as case manager, a local parent consultant for each practice, the development of an individualized health plan for each patient, and continuing medical education for health care professionals. The objectives of this study were 1) to characterize CSHCN in the PACC, 2) to assess parental satisfaction with the PACC intervention, 3) to assess the impact on hospitalizations and emergency department episodes, and 4) to assess the impact on parental workdays lost and children's school days lost for CSHCN before and during the PACC intervention. METHODS: A total of 150 CSHCN in 6 pediatric practices in the Boston, Massachusetts, area were studied. Participants were recruited by their pediatricians on the basis of medical/developmental complexity. Physicians completed enrollment information about each child's diagnosis and severity of condition. Families completed surveys at baseline and follow-up (at 2 years), assessing their experience with health care for their children. RESULTS: A total of 60% of the children had >5 conditions, 41% were dependent on medical technology, and 47% were rated by their physician as having a "severe" condition. A total of 117 (78%) families provided data after the intervention. The PACC made care delivery easier, including having the same nurse to talk to (68%), getting letters of medical necessity (67%), getting resources (60%), getting telephone calls returned (61%), getting early medical care when the child is sick (61%), communicating with the child's doctor (61%), getting referrals to specialists (61%), getting prescriptions filled (56%), getting appointments (61%), setting goals for the child (52%), understanding the child's medical condition (56%), and relationship with the child's doctor (58%). Families of children who were rated "severe" were most likely to find these aspects of care "much easier" with the help of the pediatric nurse practitioner. Satisfaction with primary care delivery was high at baseline and remained high throughout the study. There was a statistically significant decrease in parents missing >20 days of work (26% at baseline; 14.1% after PACC) and in hospitalizations (58% at baseline; 43.2% after PACC). The approximate cost per child per year of the intervention was 400 dollars. CONCLUSIONS: The PACC medical home intervention increases parent satisfaction with pediatric primary care. Those whose needs are most severe seem to benefit most from the intervention. There are some indications of improved health as well as decreased burden of disease with the intervention in place. The PACC model allows a practice to meet many of the goals of serving as a medical home with a relatively small financial investment.

Efficacy of probiotic use in acute diarrhea in children: a meta-analysis.

Our objective was to determine the efficacy of probiotic use in reducing the duration of increased stool output in children with acute diarrheal illness. Eligible studies were limited to trials of probiotic therapy in otherwise healthy children <5 years old with acute-onset diarrhea. The main outcome variable was difference in diarrhea duration between treatment and control groups. Our meta-analysis of 18 eligible studies suggests that coadministration of probiotics with standard rehydration therapy reduces the duration of acute diarrhea by approximately 1 day [random-effects pooled estimate = -0.8 days (-1.1, -0.6), P < 0.001]. Differences in treatment effect between studies was assessed by calculating the Q statistic (Q = 204. 1, P < 0.001). In subsequent analyses limited to studies of hospitalized children, to double-blinded trials, and to studies evaluating lactobacilli, the pooled estimates were similar (-0.6 to -1.2 days, P < 0.001). In conclusion, bacterial probiotic therapy shortens the duration of acute diarrheal illness in children by approximately one day.

The doctor's dilemma: challenges for the primary care physician caring for the child with special health care needs.

OBJECTIVE: To identify barriers to providing quality primary care to children with special health care needs (CSHCN). METHODOLOGY: Descriptive cross-sectional needs assessment of primary care physicians caring for CSHCN. The population consists of 30 physicians from 2 health centers and 4 private offices participating in an intervention study designed to enhance primary care for CSHCN and 20 physicians from comparable sites (2 health centers, 5 private offices). An 86-item questionnaire was administered to participants. RESULTS: Among these physicians who care for large numbers of CSHCN, over 70% were satisfied with specialist care, emergency room, and hospital care. By contrast, fewer than 50% reported satisfaction with mental health services, information available for families, access to case managers, and resources for transition-to-adult services. Seventy-one percent reported that compensation systems affected care, and more than half the physicians reported needing more time or staff to provide optimal care for CSHCN. CONCLUSIONS: Experienced physicians providing primary care for large numbers of CSHCN report that their care is adversely affected by compensation systems. There is extensive dissatisfaction with the availability of mental health services, access to community resources, transition services, and availability of written information for families.