Quality of life in hereditary neuropathy with liability to pressure palsies is as impaired as in Charcot-Marie-Tooth disease type 1A.

To date, only one study assessed quality of life (QoL) in patients with hereditary neuropathy with liability to pressure palsies (HNPP). We aimed to fill in this gap by investigating QoL in a cohort of patients with HNPP compared to Charcot-Marie-Tooth type 1A (CMT1A) patients, as well as to analyze sociodemographic and clinical features associated with QoL in HNPP. Eighteen genetically confirmed HNPP patients were age-and gender-matched with 18 CMT1A patients. SF-36 questionnaire was used to assess QoL. Medical Research Council (MRC) Sum Score, CMT Neuropathy Score (CMTNS), Overall Neuropathy Limitation Scale Score (ONLS), Falls Efficacy Score (FES), Visual Analog Pain Scale, Beck Depression Inventory (BDI) and Fatigue Severity Scale (FSS) were also used in our study. Although HNPP patients were less clinically impaired, no difference was observed in these two cohorts regarding SF-36 scores. Worse QoL in HNPP patients was associated with lower education (p < 0.01), physical work (p < 0.05), higher number of clinically affected nerves during the disease course (p < 0.01), worse MRC-SS score (p < 0.01), worse ONLS score (p < 0.01), and with more severe pain (p < 0.01), depression (p < 0.01), and fatigue (p < 0.01). Worse pain at the moment of testing appeared as a significant independent predictor of worse QoL in HNPP patients (ß = - 0.93, p < 0.001). QoL was similarly impaired in patients with HNPP and patients with CMT1A. We identified different factors associated with QoL in HNPP, and many of these factors are amenable to treatment which is of special interest in these still incurable disease.

Patient-reported Outcomes in Arthrogryposis.

BACKGROUND: Little is known about patient-reported health status in children and adolescents with arthrogryposis. Utilizing the Patient-Reported Outcome Measurement Information System (PROMIS) and Pediatric Outcomes Data Collection Instrument (PODCI) questionnaires, we investigated functional and psychosocial measures in arthrogryposis. METHODS: A total of 118 patients with arthrogryposis were identified from a prospective longitudinal cohort (the Congenital Upper Limb Difference Registry) from 2014 to 2018. Demographics and patient-reported outcome measures were evaluated, including the PROMIS [upper extremity (UE) function, pain, depression, anxiety, and peer relations] and PODCI questionnaires (UE function, pain, happiness, and global function). RESULTS: A total of 29 arthrogrypotic patients had complete PROMIS and PODCI data. This cohort was divided into distal arthrogryposis and amyoplasia groups, with 15 and 14 patients in each group, respectively. There were 8 males in the distal arthrogryposis group with a median age of 9 years and 7 males in the amyoplasia group with a median age of 8 years. For both cohorts, the median UE function PROMIS scores were significantly below population norms, 31 for distal arthrogryposis and 22 for amyoplasia. PODCI UE function was statistically lower for amyoplasia compared with the distal arthrogryposis cohort. PROMIS pain, depression, anxiety, and peer relations were in the normal range for both amyopasia and distal arthrogryposis. Median PODCI pain and happiness ranged from 85 to 88 for all patients with no statistical difference between groups. CONCLUSIONS: Arthrogryposis patients have lower UE function scores compared with population normals, but they have emotional states that are consistent with populations norms. Amyoplasia patients were functionally worse than distal arthrogryposis patients. LEVELS OF EVIDENCE: Level II.

The relationship between joint surgery and quality of life in adults with arthrogryposis: An international study.

Individuals with Arthrogryposis Multiplex Congenita (AMC) are born with multiple joint contractures in multiple body areas, typically manifested as clubfeet, extended or flexed knees and/or elbows, and internal shoulder rotation, and clasped hands. They require multiple surgeries as children, but there is little data that reports their aging and future quality of life (QOL). This study describes the relationship between AMC-related surgically-managed joints in childhood and adulthood, and QOL as adults. Participants (n = 83) from 14 countries completed an online questionnaire followed by a telephone/Skype interview as adults. Data points collected regarding total number of surgeries, affected joints, country of origin, sex, age, and SF-36's Physical Capacity Score (PCS) for QOL were analyzed using a beta regression model to explore which factors may potentially influence adult QOL. The average number of surgeries per participant was 9.8, with at least 50% performed during childhood. 78, 45, and 31% of participants had foot, knee, and hip surgeries, respectively. The model demonstrated that knee and/or shoulder surgeries were more likely to have a negative correlation with PCS; elbow surgery, however, showed a positive correlation, as elbow function may impact independent function. However, future expansion of this data set to a longitudinal registry would provide better ongoing surgery-specific data.

Quality of life, satisfaction with life, and functional mobility of young adults with arthrogryposis after leaving pediatric care.

The aim of this study was to describe satisfaction and quality of life (QOL) of young adults with arthrogryposis after leaving pediatric care. Twenty-three adults with arthrogryposis multiplex congenital (AMC) followed at a single pediatric orthopedic hospital (average age 23.6 years; range 18-36 years; 9 males, 14 females) completed questionnaires related to demographics, mobility, and activities of daily living. The Patient Reported Outcomes Measure Information System and Satisfaction with Life Scale were utilized to evaluate QOL and life satisfaction. Eighty-three percent reported general health as good/excellent, 30% lived independently, 69% were ambulatory in the community, and 57% were employed. QOL scores for physical function were lower, but other QOL scores were consistent with the general U.S. population. Average pain intensity was mild at 2.6 out of 10, with pain frequently reported in the legs and feet. Fifty-six percent were satisfied to extremely satisfied with life. Five individuals who were dissatisfied with life also reported lower physical function, higher anxiety, depression and fatigue, and pain in multiple joints. Although most young adults with AMC presented with mild pain and limitations in physical function; overall, they reported good QOL. Findings from the current study will help clinicians anticipate the needs of individuals with AMC as they transition from pediatric to adult care.

Validation of the Oswestry Disability Index for pain and disability in arthrogryposis multiplex congenita.

OBJECTIVE: Chronic musculoskeletal pain and disability is common in adults with arthrogryposis multiplex congenita (AMC), but validated outcome measures of its related disability are lacking. This study aimed to determine the content and construct validity of the Oswestry Disability Index (ODI) for an AMC-appropriate low-back and lower-extremity pain-related disability questionnaire. METHODS: A mixed methods approach was used to investigate the nature of AMC-related low-back and lower-extremity pain and disability. We included 50 adults with AMC from an international arthrogryposis study. Participants completed 5 pain and disability questionnaires and an interview. Content and construct validity of the ODI in the AMC population was assessed by the proportion of participants who stated ODI domains during the open-ended interview and by R2 values and Pearson's correlation coefficients (r-values), respectively. RESULTS: The content and construct validity of the ODI were considered moderate to high for measuring low-back pain and lower-extremity disability in the adult AMC population. Participants independently identified many activities of daily living (67%), such as walking, standing, personal care, sitting, lifting and sleeping, already included in the ODI. R2 values were>0.25 for all 3 measures, demonstrating the strength of construct validity of the ODI in individuals with AMC. CONCLUSION: The ODI is a valid outcome tool for low-back and lower-extremity pain-related disability for patients with AMC. Upper-extremity issues were not addressed by the ODI, which will be further addressed in future research.

Health-related quality of life and orthosis use in a Swedish population with arthrogryposis.

BACKGROUND: Joint contractures are the main characteristics for children with arthrogryposis multiplex congenita. Orthoses are often used to enable or facilitate walking. OBJECTIVES: To describe health-related quality of life in children with arthrogryposis multiplex congenita and satisfaction with orthoses in those using orthoses. STUDY DESIGN: Cross-sectional study. METHODS: A total of 33 children with arthrogryposis multiplex congenita participated in the study. Questionnaires were used which measured health-related quality of life (Child Health Questionnaire-Parent Form and EQ-5D youth), mobility and self-care (Paediatric Evaluation of Disability Inventory) and satisfaction with orthoses (Quebec User Evaluation of Satisfaction with Assistive Technology 2.0). Children were divided into groups based on the use of orthoses: Ort-D were dependent on orthoses for walking, Ort-ND used orthoses but were not dependent on them for walking and Non-Ort did not use orthoses. RESULTS: Children with arthrogryposis multiplex congenita had significantly lower Child Health Questionnaire scores in 9 of 12 subscales compared to healthy controls. The children's reported perceived health with EQ-5D youth did not show any difference between children using orthoses or children using only shoes. Paediatric Evaluation of Disability Inventory showed less mobility in Ort-D than in Non-Ort. In total, both orthosis groups were 'quite satisfied' with their orthoses. CONCLUSION: Child Health Questionnaire-physical functioning was lowest in children who were dependent on orthoses (Ort-D) for walking. Both Ort-D and Ort-ND were similar satisfied with their orthoses. Clinical relevance This study contributes to knowledge about health-related quality of life in a group of ambulatory children with arthrogryposis multiplex congenita. For children using orthoses, it is relevant to capture their opinion about their orthoses but a questionnaire specifically for children should be developed.

Adults Living With Amyoplasia: Function, Psychosocial Aspects, and the Benefit of AMC Support Groups.

Little is known about how adults manage living with amyoplasia. Two studies concerning adults with amyoplasia were conducted; a cross-sectional study and a qualitative study. The aims were to describe body functions, activity and participation, and to explore psychosocial dimensions. This article also emphasizes the importance of Patient Support Groups as arenas for sharing experience and gaining knowledge.

Proceso rehabilitador de artrogriposis múltiple congénita / Rehabilitating process of arthrogryposis multiplex congenital

Se presentó un caso de artrogriposis múltiple congénita, femenina, blanca, con un coeficiente intelectual de 90, con posible compromiso orgánico, de discreta dislalia, sin alteraciones visuales ni auditivas, colaboradora, comunicativa, sin dominio motriz, remitida al equipo rehabilitador por el Hospital Frank País de La Habana en 2004. El objetivo es valorar el resultado de los tratamientos sicoterapéutico y rehabilitador. Se describe todo el proceso de rehabilitación inicial contenido en la estrategia colectiva multidisciplinaria para la atención a la paciente, comenzando con terapias de apoyo sicológico integral, ejercicios respiratorios y entrenamiento familiar; 2 meses después de forma secuencial se utilizó una combinación de agentes físicos, termoterapia, masaje, electroterapia, y kinesiología, se produce un retroceso por dificultades en los flexores de la rodilla que motivó una segunda intervención. A los 4 meses sigue la estrategia rehabilitadora, que continúa en la actualidad con ganancia marcada en nivel de autoestima y autoconfianza en ella misma, para la realización de las actividades del tratamiento y de la vida diaria como lavarse la boca, peinarse, vestirse, deambular por la casa y comunicarse con vecinos, amigos y familiares; fortaleza de grupos musculares debilitados, movilizaciones con la ortesis con total grado de independencia del técnico y familiares, tanto en ida y regreso de los tramos trabajados, que primero fueron de 10 m, después se le aumentó a 15 m y así se realizaron aumentos progresivos en diferentes etapas hasta llegar a 50 m. Se concluyó que mejoró 80 por ciento con el tratamiento planificado, así como su calidad de vida y la reincorporación a la sociedad(AU)

A case of arthrogryposis multiplex congenital was presented. She was a white female patient with intellectual coefficient of 90, possible organic implication, discrete dyslalia, without visual or hearing alterations, cooperative, communicative, without motor control that was referred by Frank País Orthopaedic Hospital in Havana City in 2004. The objective is to assess the results of both rehabilitation and psychotherapy treatments. All initial rehabilitation process included in the multidisciplinary collective strategy for the patient's attention was described, beginning with comprehensive psychological support therapies, respiratory exercises and family training. Two months later, in a sequential form, a combination of physical agents, thermotherapy, massage, electrotherapy and kinesiology was used. There was a relapse due to difficulties in the knee flexors that led to a second surgical procedure. Four months later, a strategy for rehabilitating the patient began which continued to the present time with a marked enhance of self-esteem level and self- confidence to follow both treatment and daily life activities such as to brush her teeth, to comb her hair, to get dressed, to wander around the house and to communicate with neighbours, friends and relatives. Also, there was strength in the debilitated muscle groups and mobilizations with orthosis with total degree of independence from technicians and family members when going back and forth in the sections worked which corresponded to 10 m at the beginning and were increased later to 15 m, accomplishing progressive increases in different stages to finally reach 50 m. It is concluded that the patient's condition improved an 80 percent with the treatment, as well as her quality of life and her return to society(AU)

Proceso rehabilitador de artrogriposis múltiple congénita / Rehabilitating process of arthrogryposis multiplex congenital

Se presentó un caso de artrogriposis múltiple congénita, femenina, blanca, con un coeficiente intelectual de 90, con posible compromiso orgánico, de discreta dislalia, sin alteraciones visuales ni auditivas, colaboradora, comunicativa, sin dominio motriz, remitida al equipo rehabilitador por el Hospital Frank País de La Habana en 2004. El objetivo es valorar el resultado de los tratamientos sicoterapéutico y rehabilitador. Se describe todo el proceso de rehabilitación inicial contenido en la estrategia colectiva multidisciplinaria para la atención a la paciente, comenzando con terapias de apoyo sicológico integral, ejercicios respiratorios y entrenamiento familiar; 2 meses después de forma secuencial se utilizó una combinación de agentes físicos, termoterapia, masaje, electroterapia, y kinesiología, se produce un retroceso por dificultades en los flexores de la rodilla que motivó una segunda intervención. A los 4 meses sigue la estrategia rehabilitadora, que continúa en la actualidad con ganancia marcada en nivel de autoestima y autoconfianza en ella misma, para la realización de las actividades del tratamiento y de la vida diaria como lavarse la boca, peinarse, vestirse, deambular por la casa y comunicarse con vecinos, amigos y familiares; fortaleza de grupos musculares debilitados, movilizaciones con la ortesis con total grado de independencia del técnico y familiares, tanto en ida y regreso de los tramos trabajados, que primero fueron de 10 m, después se le aumentó a 15 m y así se realizaron aumentos progresivos en diferentes etapas hasta llegar a 50 m. Se concluyó que mejoró 80 por ciento con el tratamiento planificado, así como su calidad de vida y la reincorporación a la sociedad(AU)

A case of arthrogryposis multiplex congenital was presented. She was a white female patient with intellectual coefficient of 90, possible organic implication, discrete dyslalia, without visual or hearing alterations, cooperative, communicative, without motor control that was referred by Frank País Orthopaedic Hospital in Havana City in 2004. The objective is to assess the results of both rehabilitation and psychotherapy treatments. All initial rehabilitation process included in the multidisciplinary collective strategy for the patient's attention was described, beginning with comprehensive psychological support therapies, respiratory exercises and family training. Two months later, in a sequential form, a combination of physical agents, thermotherapy, massage, electrotherapy and kinesiology was used. There was a relapse due to difficulties in the knee flexors that led to a second surgical procedure. Four months later, a strategy for rehabilitating the patient began which continued to the present time with a marked enhance of self-esteem level and self- confidence to follow both treatment and daily life activities such as to brush her teeth, to comb her hair, to get dressed, to wander around the house and to communicate with neighbours, friends and relatives. Also, there was strength in the debilitated muscle groups and mobilizations with orthosis with total degree of independence from technicians and family members when going back and forth in the sections worked which corresponded to 10 m at the beginning and were increased later to 15 m, accomplishing progressive increases in different stages to finally reach 50 m. It is concluded that the patient's condition improved an 80 percent with the treatment, as well as her quality of life and her return to society(AU)

Amyoplasia: a case report of an old woman.

PURPOSE: Little information exists about the long-term outcome of amyoplasia. In this article, a case report of a 93-year old woman is presented including both the development of the physical limitations and coping strategies. METHOD: The medical records, physical examinations and personal interviews during the last 10 years, autobiographical essays and personal photographs were included. RESULTS: Eleven surgical procedures were performed during childhood and ten during adulthood. Ambulation without aids was possible up to the age of 37 years. Thereafter, the muscular force declined gradually, first in the legs and later in the arms. Musculoskeletal pain decreased during ageing. There was an increasing demand to use technical aids. Seniority brought about several diseases, which complicated the quality of life. The woman stayed 32 years of her life in work. CONCLUSIONS: A high age can be achieved with amyoplasia although the disability increases due to a gradual deterioration of muscular force. The personal experiences of the woman suggest that her active and creative attitude towards her disability may have contributed to the quality of her life. This may encourage people with amyoplasia and their care givers. IMPLICATIONS FOR REHABILITATION: • There are no data about ageing and life-long prognosis of amyoplasia. • Severe physical limitations in amyoplasia are compatible with a long and meaningful life. • Muscular force decreases during adult life. Therefore, a potential risk of overtraining should be considered.

Powered feeding devices: an evaluation of three models.

OBJECTIVE: To evaluate and compare three powered feeding devices (Beeson, Handy 1, Winsford) as perceived by disabled individuals who require assistance with eating. DESIGN: Subjects and assistants were surveyed after using each device and serving their own controls. The order in which the devices were used was balanced. SETTING: Place of subjects' residence. SUBJECTS: Twelve subjects, ages 11 to 42 years, and their feeding assistants. INTERVENTION: Each device trial covered a 4-day period. Day 1 focused on training to use the device, Days 2 and 3 focused on using the device at home, and on Day 4 subjects returned to the laboratory for debriefing, completing questionnaires, and videotaping. MAIN OUTCOME MEASURE: Subjects and assistants answered questionnaires including Likert-like rankings and yes/no responses regarding functional and esthetic characteristics of each feeding device. RESULTS: Significant differences were found among three powered feeding devices regarding specific design characteristic. Great percentages of both subjects and their feeding assistants responded that the devices were an improvement over how they were currently being fed and that they would use such a device on a daily basis. CONCLUSION: Individuals dependent on others for feeding may benefit from the use of a powered feeding device.

Arthrogryposis multiplex congenita: perinatal and electromyographic findings, disability, and psychosocial outcome.

Fifty-two patients with arthrogryposis multiplex congenita were followed up for 1 to 36 years. There were six twin pregnancies, and delivery was complicated by breech position in 16 cases. In 19 cases the cause was atrophy of the alpha motoneurons of the spinal cord, detected by electromyography. Six patients did not achieve walking ability. Severe disability for other reasons was noted in two patients who had bilateral rigid extension contractures of the elbows and in six patients whose spinal deformities interfered with the balance of the trunk. Treatment of flexion contractures of the hips and knees seemed to be important in case it promotes the walking ability. Spinal deformities interfering with the balance of the trunk should be treated operatively. Restoration of elbow flexion was the main goal in operative treatment of the upper extremities. The intelligence of the patients was slightly above normal. The psychological analysis revealed significant diverging features compared with average population in testing situation. Socially the patients seemed to cope well.

Arthrogryposis. Pediatric review and habilitative aspects.

A precise diagnosis among the types of arthrogryposis must be made. For amyoplasia, the recurrence risk is nonexistent, the natural history favorable. During the first weeks, frequent stretching supported by maintenance casting and splinting of severe or generalized contractures is indicated in a residential multidisciplinary center. The key to deformity is the rigidity of the periarticular structures. With limb growth, contractures progress or recur. The growth years must therefore be dominated by physical management, which consists of stretching, casting, and bracing interspersed by staged soft-tissue procedures. At completion of limb growth, final corrections should be attained by osteotomies. Adolescence should be a time to follow social and prevocational pursuits in preparation for a place in society.