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Robert D Vining,1 Stacie A Salsbury,1 W Carl Cooley,2 Donna Gosselin,3 Lance Corber,1 Christine M Goertz1 1Palmer Center for Chiropractic Research, Palmer College of Chiropractic, Davenport, IA, USA; 2Department of Pediatrics, Geisel School of Medicine at Dartmouth, Hanover, NH, USA; 3Independent Consultant, Milford, NH, USA Objectives: Individuals rehabilitating from complex neurological injury require a multidisciplinary approach, which typically does not include chiropractic care. This study describes inpatients receiving multidisciplinary rehabilitation including chiropractic care for brain injury, spinal cord injury (SCI), stroke, and other complex neurological conditions.Design: Chiropractic services were integrated into Crotched Mountain Specialty Hospital (CMSH) through this project. Patient characteristics and chiropractic care data were collected to describe those receiving care and the interventions during the first 15 months when chiropractic services were available.Setting: CMSH, a 62-bed subacute multidisciplinary rehabilitation, skilled nursing facility located in Greenfield, New Hampshire, USA. Results: Patient mean (SD) age (n=27) was 42.8 (13) years, ranging from 20 to 64 years. Males (n=18, 67%) and those of white race/ethnicity (n=23, 85%) comprised the majority. Brain injury (n=20) was the most common admitting condition caused by trauma (n=9), hemorrhage (n=7), infarction (n=2), and general anoxia (n=2). Three patients were admitted for cervical SCI, 1 for ankylosing spondylitis, 1 for traumatic polyarthropathy, and 2 for respiratory failure with encephalopathy. Other common comorbid diagnoses potentially complicating the treatment and recovery process included myospasm (n=13), depression (n=11), anxiety (n=10), dysphagia (n=8), substance abuse (n=8), and candidiasis (n=7). Chiropractic procedures employed, by visit (n=641), included manual myofascial therapies (93%), mechanical percussion (83%), manual muscle stretching (75%), and thrust manipulation (65%) to address patients with spinal-related pain (n=15, 54%), joint or regional stiffness (n= 14, 50%), and extremity pain (n=13, 46%). Care often required adapting to participant limitations or conditions. Such adaptations not commonly encountered in outpatient settings where chiropractic care is usually delivered included the need for lift assistance, wheelchair dependence, contractures, impaired speech, quadriplegia/paraplegia, and the presence of feeding tubes and urinary catheters.Conclusion: Patients suffered significant functional limitations and comorbidity resulting in modifications to the typical delivery of chiropractic care. Chiropractic services focused on relieving musculoskeletal pain and stiffness. Keywords: chiropractic, spinal cord injury, stroke, rehabilitation, integrative medicine

Children and youth with cerebral palsy present pediatricians with complex diagnostic and therapeutic challenges. In most instances, care also requires communication and comanagement with pediatric subspecialists and pediatric surgical specialists, therapists, and community developmental and educational teams. The importance of family resilience to the patient's well-being broadens the ecologic scope of care, which highlights the value of a primary care medical home from which care is initiated, coordinated, and monitored and with which families can form a reliable alliance for information, support, and advocacy from the time of diagnosis through the transition to adulthood. This report reviews the aspects of care specific to cerebral palsy that a medical home should provide beyond the routine health maintenance, preventive care, and anticipatory guidance needed by all children. [ABSTRACT FROM AUTHOR]

Families and professionals agree that children and adolescents need access to community-based medical homes. This is especially true for children with special health care needs (CSHCN). Most primary care practices are designed for children's routine preventive and acute care needs. CSHCN benefit from care that is integrated with well-child and acute care; coordinated and actively co-managed with specialists, therapists, and educators; and offered in a planned, anticipatory manner. As the primary caregiver and decision maker, families need to be supported in a culturally effective way. Families want community resources that are integrated with care processes. Primary care practices that serve CSHCN require a practical and effective improvement method to become fully realized medical homes. A change method, which blends improvement strategies with progressive measurement, must be perceived by practices as practical and helpful, and it must be supported. The Center for Medical Home Improvement has developed and tested an effective model of medical home improvement and tools to measure the status of a practice and its progress of change. [ABSTRACT FROM AUTHOR]

Risk and vulnerability encompass many dimensions of the transition from adolescence to adulthood. Transition from pediatric, parent-supervised health care to more independent, patient-centered adult health care is no exception. The tenets and algorithm of the original 2011 clinical report, "Supporting the Health Care Transition from Adolescence to Adulthood in the Medical Home," are unchanged. This updated clinical report provides more practice-based quality improvement guidance on key elements of transition planning, transfer, and integration into adult care for all youth and young adults. It also includes new and updated sections on definition and guiding principles, the status of health care transition preparation among youth, barriers, outcome evidence, recommended health care transition processes and implementation strategies using quality improvement methods, special populations, education and training in pediatric onset conditions, and payment options. The clinical report also includes new recommendations pertaining to infrastructure, education and training, payment, and research., Competing Interests: POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose., (Copyright © 2018 by the American Academy of Pediatrics.)

Objectives: To explore how care coordination changes conceptually and practically in primary care practices when implementing the medical home and to identify reasons for different types of changes., Methods: Six years after a 2003-2004 national learning collaborative to implement the medical home model for children with special health care needs, we examined care coordination in 12 pediatric practices with the highest postintervention Medical Home Index scores, indicating high level of adoption of the model. Data included interviews of 48 clinicians, care coordinators, and parents and medical record reviews of 60 patients with special health care needs receiving care in these practices., Results: Initially, care coordination activities were prompted by patients' acute problems, and over time activities, tools, and policies were implemented to avert many such problems and expand the scope of services offered to patients. Example activities were making previsit calls with families, writing care plans, developing relationships with community agencies, and tracking referrals. Although some activities were common across practices, the persons involved and efforts toward different activities varied with practice context. Drivers included motivation and creativity of medical home teams, organizational changes, funding to expand care coordinator positions, protected time for such activities, and adoption of electronic record systems., Conclusions: In high-performing medical homes, care coordination activities changed from being mostly reactive to patients' episodic needs to being more systematically proactive and comprehensive. This shift was promoted by factors external and internal to the practice. Ensuring these factors in medical home implementation may accelerate adoption of proactive care coordination activities., (Copyright © 2015 by the American Academy of Pediatrics.)

Purpose: Assess relationships between having a patient-centered medical home (PCMH) and health care utilization among low-income children with chronic conditions using parent and practice perspectives., Methods: We analyzed data from 240 publicly insured children with chronic conditions. Parents completed surveys assessing PCMH access and their child's primary care practice completed the Medical Home Index (MHI) self-assessment. Multivariate negative binomial analyses were conducted to investigate relationships between PCMH and service use., Results: Parent-report of a usual source of care was associated with lower rates of emergency care (ED) encounters and hospitalizations. Practice report of higher organizational capacity (e.g., communication, staff education) was associated with lower rates of ED visits and hospitalizations. Parent report of a PCMH was positively associated with practice MHI score., Conclusions: Among low-income children with chronic conditions, having a usual source of care and higher quality organizational capacity were associated with lower rates of ED visits and hospitalizations.

Purpose: To examine the relationship between quality improvement activities with pediatric and adult primary care practices and improvements in transition from pediatric to adult care., Methods: This was a time-series comparative study of changes in pediatric and adult practices involving five large pediatric and adult academic health centers in the District of Columbia. Using the Health Care Transition Index (pediatric and adult versions), we examined improvements in specific indicators of transition performance, including development of an office transition policy, provider knowledge and skills related to transition, identification of transitioning youth, transition preparation of youth, transition planning, and transfer of care., Results: Improvements took place in all six transition quality indicators in the pediatric and adult practices that participated in a 2-year learning collaborative to implement the "Six Core Elements of Health Care Transition," a quality improvement intervention modeled after the American Academy of Pediatrics/American Academy of Family Physicians/American College of Physicians Clinical Report on Transition. All sites established a practice-wide policy on transition and created an organized clinical process for tracking transition preparation. The pediatric sites conducted transition readiness assessments with 88% of eligible youth and prepared transition plans for 29% of this group. The adult sites conducted transition readiness assessments with 73% of eligible young adults and developed plans for 33%. A total of 50 were transferred in a systematic way to adult primary care practices., Conclusions: Quality improvement using the Six Core Elements of Health Care Transition resulted in the development of a systematic clinical transition process in pediatric and adult academic primary care practices., (Copyright © 2015 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.)

Objectives: To assess primary care pediatric providers' comfort with co-managing patients with rare conditions., Methods: A survey was sent via an electronic link to pediatricians and family practitioners. Chi-square test of significance and Fisher's exact test were used for categorical variable comparisons and the Student's t test was used for continuous variable comparisons., Results: Most of the providers believed that care decisions are most frequently made by the specialist with consultation with the primary care clinician. The most common source of information is direct communication from the specialist. The most effective tool to increase clarity and comfort about provider roles was an active care plan identifying current care needs, who will act on the plan, and when the action should be completed., Conclusions: Coordinated co-management in which caregiving roles are explicitly defined and tools are available for the timely exchange of information among all key participants warrants further study.

Objectives: Care coordination and the medical home may ensure access to specialty care. Children with special health care needs (CSHCN) have higher rates of specialty care use and unmet need compared with the general pediatric population. We hypothesized that care coordination, regardless of whether it was provided in a medical home, would decrease unmet specialty care needs among CSHCN and that the effect of care coordination would be greater among low-income families., Methods: Secondary data analysis of participants in the 2009–2010 National Survey of CSHCN who reported unmet specialty care needs and for whom care coordination and medical home status could be determined (n = 18 905). Logistic regression models explored the association of unmet need with care coordination and medical home status adjusting for household income., Results: Approximately 9% of CSHCN reported having unmet specialty care needs. Care coordination was associated with reduced odds of unmet specialty care need (without a medical home, odds ratio: 0.63, 95% confidence interval: 0.47–0.86; within a medical home, odds ratio: 0.22, 95% confidence interval: 0.16–0.29) with a greater reduction among those receiving care coordination within a medical home versus those receiving care coordination without a medical home. We did not find differences in the impact of care coordination by percentage of the federal poverty level., Conclusions: Care coordination is associated with family report of decreased unmet specialty care needs among CSHCN independent of household income. The effect of care coordination is greater when care is received in a medical home.

Objective: To examine current US performance on transition from pediatric to adult health care and discuss strategies for improvement., Methods: The 2009-2010 National Survey of Children with Special Health Care Needs is a nationally representative sample with 17 114 parent respondents who have youth with special health care needs (YSHCN) ages 12 and 18. They are asked about transition to an adult provider, changing health care needs, increasing responsibility for health care needs, and maintaining insurance coverage. We analyzed the association of selected characteristics with successful transition preparation., Results: Overall, 40% of YSHCN meet the national transition core outcome. Several factors are associated with transition preparation, including female gender; younger age; white race; non-Hispanic ethnicity; income ≥400% of poverty; little or no impact of condition on activities; having a condition other than an emotional, behavioral, or developmental condition; having a medical home; and being privately insured., Conclusions: Most YSHCN are not receiving needed transition preparation. Although most providers are encouraging YSHCN to assume responsibility for their own health, far fewer are discussing transfer to an adult provider and insurance continuity. Although changes in sample design limit trend analysis, there have been no discernible improvements since this transition outcome was measured in the 2005-2006 National Survey of Children with Special Health Care Needs. The 2011 release of the American Academy of Pediatrics/American Academy of Family Physicians/American College of Physicians clinical recommendations on transition, new transition tools, and the spread of medical home should stimulate future improvements in transition performance.

Purpose: The aim of this study was to characterize essential factors to the medical home transformation of high-performing pediatric primary care practices 6 to 7 years after their participation in a national medical home learning collaborative., Methods: We evaluated the 12 primary care practice teams having the highest Medical Home Index (MHI) scores after participation in a national medical home learning collaborative with current MHI scores, a clinician staff questionnaire (assessing adaptive reserve), and semistructured interviews. We reviewed factors that emerged from interviews and analyzed domains and subdomains for their agreement with MHI and adaptive reserve domains and subthemes using a process of triangulation., Results: At 6 to 7 years after learning collaborative participation, 4 essential medical home attributes emerged as drivers of transformation: (1) a culture of quality improvement, (2) family-centered care with parents as improvement partners, (3) team-based care, and (4) care coordination. These high-performing practices developed comprehensive, family-centered, planned care processes including flexible access options, population approaches, and shared care plans. Eleven practices evolved to employ care coordinators. Family satisfaction appeared to stem from better access, care, and safety, and having a strong relationship with their health care team. Physician and staff satisfaction was high even while leadership activities strained personal time., Conclusions: Participation in a medical home learning collaborative stimulated, but did not complete, medical home changes in 12 pediatric practices. Medical home transformation required continuous development, ongoing quality improvement, family partnership skills, an attitude of teamwork, and strong care coordination functions.

Objective: To describe factors that influence parent-clinician partnerships in information exchange and shared decision making (SDM) when children with special health care needs are referred to subspecialists., Methods: We conducted focus groups with parents of children with special health care needs and pediatric primary care and subspecialty clinicians about how to include parents as partners in information exchange and SDM. Five parent and 5 clinician groups were held to identify themes to inform the development of interventions to promote parent partnerships; evaluate a prototype referral care plan and related parent supports as one example of a partnership tool; and compare the views of parents and clinicians. We used investigator triangulation and member checking to improve validity., Results: Nineteen parents and 23 clinicians participated. Parents discussed partnerships more easily than clinicians did, though clinicians offered more ideas as sessions progressed. Parents and clinicians agreed on the importance of 3-way communication and valued primary care involvement in all stages of referral and consultation. SDM was seen by all as important; clinicians cited difficulties inherent in discussing unclear options, while parents cited insufficient information as a barrier to understanding. Use of a brief referral care plan, with parent coaching, was embraced by all parents and most clinicians. Clinicians cited time pressures and interference with work flow as potential barriers to its use., Conclusions: Parents and clinicians endorse partnership in referrals, though relatively greater enthusiasm from parents may signal the need for work in implementing this partnership. Use of a care plan to support parent engagement appears promising as a partnership tool., (Copyright © 2013 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.)

The care of individuals with rare heritable conditions, such as those detectable through newborn screening, is an important target for quality improvement. Not only is there great opportunity to improve long-term outcomes, but there are lessons that can be generalized to the care of all children with special health-care needs. To identify an approach to quality improvement for individuals with conditions identified through newborn screening, the National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives convened an expert workgroup to develop strategies based on a family-centered, community-based system of care. These recommendations centered on involving families, the primary care medical home, and specialty care providers as equal partners. Key activities to improve care include explicit care coordination, identification of the location of management, and planned co-management. To implement this model of care, the Regional Collaboratives will develop a clearinghouse of tools, engage in activities to evaluate the effectiveness of interventions to improve co-management, and identify strategies to align incentives for health-care providers and families to work together.

Native oyster populations in Chesapeake Bay have been the focus of three decades of restoration attempts, which have generally failed to rebuild the populations and oyster reef structure. Recent restoration successes and field experiments indicate that high-relief reefs persist, likely due to elevated reef height which offsets heavy sedimentation and promotes oyster survival, disease resistance and growth, in contrast to low-relief reefs which degrade in just a few years. These findings suggest the existence of alternative stable states in oyster reef populations. We developed a mathematical model consisting of three differential equations that represent volumes of live oysters, dead oyster shells (=accreting reef), and sediment. Bifurcation analysis and numerical simulations demonstrated that multiple nonnegative equilibria can exist for live oyster, accreting reef and sediment volume at an ecologically reasonable range of parameter values; the initial height of oyster reefs determined which equilibrium was reached. This investigation thus provides a conceptual framework for alternative stable states in native oyster populations, and can be used as a tool to improve the likelihood of success in restoration efforts., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

Background: Although newborn screening for critical congenital heart disease (CCHD) was recommended by the US Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children to promote early detection, it was deemed by the Secretary of the HHS as not ready for adoption pending an implementation plan from HHS agencies., Objective: To develop strategies for the implementation of safe, effective, and efficient screening., Methods: A work group was convened with members selected by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children, the American Academy of Pediatrics, the American College of Cardiology Foundation, and the American Heart Association., Results: On the basis of published and unpublished data, the work group made recommendations for a standardized approach to screening and diagnostic follow-up. Key issues for future research and evaluation were identified., Conclusions: The work-group members found sufficient evidence to begin screening for low blood oxygen saturation through the use of pulse-oximetry monitoring to detect CCHD in well-infant and intermediate care nurseries. Research is needed regarding screening in special populations (eg, at high altitude) and to evaluate service infrastructure and delivery strategies (eg, telemedicine) for nurseries without on-site echocardiography. Public health agencies will have an important role in quality assurance and surveillance. Central to the effectiveness of screening will be the development of a national technical assistance center to coordinate implementation and evaluation of newborn screening for CCHD.

Optimal health care is achieved when each person, at every age, receives medically and developmentally appropriate care. The goal of a planned health care transition is to maximize lifelong functioning and well-being for all youth, including those who have special health care needs and those who do not. This process includes ensuring that high-quality, developmentally appropriate health care services are available in an uninterrupted manner as the person moves from adolescence to adulthood. A well-timed transition from child- to adult-oriented health care is specific to each person and ideally occurs between the ages of 18 and 21 years. Coordination of patient, family, and provider responsibilities enables youth to optimize their ability to assume adult roles and activities. This clinical report represents expert opinion and consensus on the practice-based implementation of transition for all youth beginning in early adolescence. It provides a structure for training and continuing education to further understanding of the nature of adolescent transition and how best to support it. Primary care physicians, nurse practitioners, and physician assistants, as well as medical subspecialists, are encouraged to adopt these materials and make this process specific to their settings and populations., (Copyright © 2011 by the American Academy of Pediatrics.)

Objective: The medical home model with its emphasis on planned care, care coordination, family-centered approaches, and quality provides an attractive concept construct for primary care redesign. Studies of medical home components have shown increased quality and reduced costs, but the medical home model as a whole has not been studied systematically. This study tested the hypothesis that increased medical homeness in primary care practice is associated with decreased utilization of health services and increased patient satisfaction., Methods: Forty-three primary care practices were identified through 7 health plans in 5 states. Using the Medical Home Index (MHI), each practice's implementation of medical home concepts "medical homeness" was measured. Health plans provided the previous year's utilization data for children with 6 chronic conditions. The plans identified 42 children in each practice with these chronic conditions and surveyed their families regarding satisfaction with care and burden of illness., Results: Higher MHI scores and higher subdomain scores for organizational capacity, care coordination, and chronic-condition management were associated with significantly fewer hospitalizations. Higher chronic-condition management scores were associated with lower emergency department use. Family survey data yielded no recognizable trends with respect to the medical home measurement., Conclusions: Developing an evidence base for the value of the primary care medical home has importance for providers, payers, policy makers, and consumers. Reducing hospitalizations through enhanced primary care provides a potential case for new reimbursement strategies supporting medical home services such as care coordination. Larger-scale studies are needed to further develop/examine these relationships.

Families who raise children and youth with special health care needs deserve a medical home. They expect a team approach to health care, with coordination across multiple services and settings. Children, youth, and families benefit from the organization of critical information into written care summaries and action plans. If primary care pediatricians, family physicians, and internists are to achieve optimal health care quality and improvement of existing health care delivery, care coordination will be an essential contributing process to their team approach. Several national health policy recommendations identify care coordination as a cross-cutting intervention to fill the gap between what exists and what is needed in health care today. A practice-based care-coordination model, including a definition and vision for care, a framework of structures and processes, and a position description with specific competencies, is needed. Improvement methodology provides an effective means for health care teams to implement and evaluate practice-based care coordination within their medical home. The improvement approach and model must be flexibly applied to have utility across diverse health care organizations. A medical home team approach, with fully developed practice-based care-coordination services, will enhance health and cost outcomes for children, youth, and families and heighten the professional satisfaction of those delivering health care.

Recent evidence supports a role for genetics in autism, but other findings are difficult to reconcile with a purely genetic cause. Pathological changes in the cerebellum in autism are thought to correspond to an event before 30-32 weeks gestation. Our purpose was to determine whether there is an increased incidence of stressors in autism before this time period. Surveys regarding incidence and timing of prenatal stressors were distributed to specialized schools and clinics for autism and Down syndrome, and to mothers of children without neurodevelopmental diagnoses in walk-in clinics. Incidence of stressors during each 4-week block of pregnancy was recorded. Incidence of stressors in the blocks prior to and including the predicted time period (21-32 weeks gestation) in each group of surveys was compared to the other prenatal blocks. A higher incidence of prenatal stressors was found in autism at 21-32 weeks gestation, with a peak at 25-28 weeks. This does support the possibility of prenatal stressors as a potential contributor to autism, with the timing of stressors consistent with the embryological age suggested by neuroanatomical findings seen in the cerebellum in autism. Future prospective studies would be needed to confirm this finding.

Purpose of Review: As considerations of the quality of health care have matured, the role of pediatric primary care providers and models for the delivery of primary care have received growing attention. Particularly for children with chronic conditions, the need for proactive, planned, and coordinated care delivered in partnership with consumers has become more apparent. The primary care medical home has emerged as a model favored by national organizations representing pediatricians and family physicians as well as national public health policy makers, yet implementation of this model remains limited and the evidence base for its value is not yet highly developed., Recent Findings: Most studies of primary care outcomes involve individual elements of the medical home such as care coordination and continuity of care. Limited data that are emerging from studies of the medical home model as a whole in practice settings suggest improvements in patient satisfaction and in some areas of utilization. No data are available that examine specific functional or physical health outcomes associated with primary care models like the medical home., Summary: The pediatric primary care medical home provides a care model for both well children and those with special health care needs that expands primary care services beyond those provided in the examination room by individual providers to include systemic services such as patient registries, explicit care planning and care coordination, planned co-management with specialists, patient advocacy, and patient education. There is an immediate need for large-scale, practice-based studies of the outcomes for children and youth, providers, and the health care system when such improvements in primary care are implemented.

Objective: The Medical Home is a clinical practice concept that sets new standards for pediatric primary care. This study describes the development and validation of a tool to measure the Medical Home., Methodology: The Medical Home Index (MHI) consists of 25 themes arranged among 6 domains of primary care office activity. A national panel of experts on the Medical Home reviewed a prototype of the instrument. Pediatric primary care offices completed the MHI and participated in 90-minute on-site interviews with two of the authors (J.W.M., K.S.). The study examined interrater reliability between the 2 project staff and between the practices and project staff and the internal consistency of MHI domains and themes., Results: On a 100-point scale, 43 practices demonstrated a range of MHI summary scores from 18.9 to 75.4, with a mean of 43.9. Kappa coefficients of interrater reliability between two Center for Medical Home Improvement project staff were above.50 for all 25 themes. Kappa scores comparing each staff member and the practice sites' self-assessment found 80% of the themes at.65 or better for one interviewer (J.W.M.) and 60% of the themes at.65 or better for the second interviewer (K.S.). Intraclass correlation coefficients between the summary scores of the interviewers were.98 and between the scores of the two interviewers and the scores of the practices was.97. The internal consistency reliability standardized alpha coefficients across the 6 domains of the MHI ranged from.81 to.91, and the overall standardized alpha coefficient was.96., Conclusions: In the sample of practices studied, the MHI was an internally consistent instrument with acceptable reliability and validity for pediatric primary care practices to assess their implementation of the Medical Home concept. Further work is needed to study its correlation with other process and outcome measures and its performance in a wider range of practices.

This statement reviews patterning as a treatment for children with neurologic impairments. This treatment is based on an outmoded and oversimplified theory of brain development. Current information does not support the claims of proponents that this treatment is efficacious, and its use continues to be unwarranted.

Care coordination is a process that links children with special health care needs and their families to services and resources in a coordinated effort to maximize the potential of the children and provide them with optimal health care. Care coordination often is complicated because there is no single entry point to multiple systems of care, and complex criteria determine the availability of funding and services among public and private payers. Economic and sociocultural barriers to coordination of care exist and affect families and health care professionals. In their important role of providing a medical home for all children, primary care pediatricians have a vital role in the process of care coordination, in concert with the family.

This article characterizes the critical role of the primary care physician in the identification, initial evaluation, and management of children with developmental disabilities. Problems of definition and epidemiology are reviewed and linked to issues of referral and eligibility for services and supports. Developmental screening methods afford opportunities for early identification, whereas chronic condition management in primary care defines a more explicit role for the pediatric primary care provider., (Copyright 1999 Wiley-Liss, Inc.)

A large New England family with autosomal dominant familial spastic paraplegia (ADFSP) is described. In a pedigree of 173 family members, 71 affected individuals were identified. 16 cases examined by the authors are described with regard to the natural history of ADFSP in this family, and a staging system for following progress and planning interventions is proposed. Three illustrative cases are presented. In this family, ADFSP was found to have a homogeneous clinical course, with nearly complete penetrance. Onset, with involvement limited to the lower extremities, occurred by three years of age, after which no significant progression was noted. Early, aggressive habilitative care may result in more functional ambulation for the youngest family members.

A large New England family with autosomal dominant familial spastic paraplegia is described. In a pedigree of 173 individuals, 71 affected individuals are identified. Seventeen cases examined by the authors are described with regard to the natural history of FSP in this family. A staging system for following progress and planning interventions is proposed. Three illustrative cases are presented. In this family, FSP is found to have a homogeneous clinical course with nearly complete penetrance. Onset occurs at or before 3 years of age with involvement limited to the lower extremities. After the initial onset, no significant progression was noted. Early aggressive habilitative care may result in more functional ambulation.

Analysis of partial duplication of chromosome 21 suggests that band 21q22 contains determinants for the Down syndrome. We report two cases of free proximal trisomy 21 without manifestations of the Down syndrome. Phenotypic anomalies included marked microcephaly, short stature, hypoplastic nails, and mental retardation/developmental delay. Our cases are consistent with the assignment of band 21q22 as the causal duplicated segment in the Down syndrome.