The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs.

Moving a missing hand: children born with below elbow deficiency can enact hand grasp patterns with their residual muscles.

Children with a unilateral congenital below elbow deficiency (UCBED) have one typical upper limb and one that lacks a hand, ending below the elbow at the proximal/mid forearm. UCBED is an isolated condition, and affected children otherwise develop normal sensorimotor control. Unlike adults with upper limb absence, the majority of whom have an acquired loss, children with UCBED never developed a hand, so their residual muscles have never actuated an intact limb. Their ability to purposefully modulate affected muscle activity is often assumed to be limited, and this assumption has influenced prosthetic design and prescription practices for this population as many modern devices derive control signals from affected muscle activity. To better understand the motor capabilities of the affected muscles, we used ultrasound imaging to study 6 children with UCBED. We examined the extent to which subjects activate their affected muscles when performing mirrored movements with their typical and missing hands. We demonstrate that all subjects could intentionally and consistently enact at least five distinct muscle patterns when attempting different missing hand movements (e.g., power grasp) and found similar performance across affected and typically developed limbs. These results suggest that although participants had never actuated the missing hand they could distinctively and consistently activate the residual muscle patterns associated with actions on the unaffected side. These findings indicate that motor control still develops in the absence of the normal effector, and can serve as a guide for developing prostheses that leverage the full extent of these children's motor control capabilities.

HipScreen mobile app for the measurement of hip migration percentage in children with cerebral palsy: Accuracy, reliability, and discriminatory ability.

AIM: To assess the accuracy, reliability, and discriminatory ability of a mobile app for measurement of migration percentage in hip surveillance radiographs of children with cerebral palsy (CP). METHOD: The free mobile app HipScreen (www.hipscreen.org) was utilized by a diverse group of users to measure the migration percentage of 40 hips at two time points after completing an online tutorial and competency test. The mean absolute error (MAE) was calculated against the reference standard obtained on a radiology workstation. Statistical analyses included linear regression, intraclass correlation coefficient (ICC), and area under receiver-operating characteristic curve (AUC). RESULTS: Thirty-seven users completed the study, with 30 having a healthcare professional background, but only 15 with x-ray interpretation expertise. The overall MAE of migration percentage measurement using the HipScreen app was 5.72% (95% confidence interval [CI]: 5.38-6.06), with good reliability between time points (ICC = 0.83). With a migration percentage less than 30% considered as a positive case, the HipScreen app had a sensitivity of 94% (95% CI: 87-97), specificity of 66% (95% CI: 61-77), and an AUC of 0.92 (95% CI: 0.88-0.96). INTERPRETATION: Users from a broad range of backgrounds can utilize the HipScreen app to measure hip surveillance radiographs with clinically acceptable accuracy, reliability, and discriminatory ability. WHAT THIS PAPER ADDS: The HipScreen app can accurately and reliably measure migration percentage. As a screening tool, HipScreen has excellent sensitivity and discriminatory ability. A broad range of HipScreen users achieve clinically acceptable performance.

Patella Alta in Ambulatory Children With Cerebral Palsy: Prevalence and Functional Significance.

BACKGROUND: Gait dysfunction associated with patella alta (PA) in subjects with cerebral palsy (CP) has been presumed but not objectively established clinically or through biomechanical modeling. It is hypothesized that PA is associated with increasing level of motor impairment, increasing age, obesity, and worse stance phase knee kinematics and kinetics in children with CP. METHODS: Retrospective case series of 297 subjects with CP studied in our Motion Analysis Center. Data analyzed included patient demographics (age, body mass index, CP classification), patella height (Koshino-Sugimoto Index), and knee kinematics and kinetics. RESULTS: PA was present in 180 of 297 subjects (61%), in 68 of the 146 (47%) with unilateral CP, and 112 of 151 subjects (74%) with bilateral CP. For unilateral CP, the prevalence of PA was not significantly different between Gross Motor Function Classification System (GMFCS) I and II (P=0.357). For bilateral CP, the prevalence of PA in GMFCS III was significantly greater than in GMFCS I and II (P=0.02). Regression analysis showed a significant trend between increasing age and PA in unilateral and bilateral groups (P<0.001 and 0.001, respectively). The prevalence of PA was not significantly different across body mass index categories for either unilateral or bilateral groups. There were only 2 of 10 significant correlations between PA and gait parameters for subjects with unilateral CP functioning at the GMFCS I and II levels. There were 8 of 12 significant correlations between PA and gait parameters for subjects with bilateral CP functioning at the GMFCS I, II, and III levels. CONCLUSIONS: PA is common in ambulatory children with CP across topographic types and motor functional levels. PA is well tolerated with respect to gait dysfunction in unilateral CP, but may contribute to crouch gait in bilateral CP. Gait dysfunction cannot be inferred from the radiographic assessment of patellar height, and radiographic evidence of PA by itself does not justify surgical correction with patellar tendon advancement or shortening. LEVEL OF EVIDENCE: Level III-prognostic, retrospective series.

Proximal Femoral Deformity Following Threaded Prophylactic Fixation for Slipped Capital Femoral Epiphysis: Risk Stratification Using the Modified Oxford Score.

BACKGROUND: This study assesses the effect of skeletal maturity on the development of iatrogenic proximal femoral deformity following threaded prophylactic screw fixation in patients presenting with unilateral slipped capital femoral epiphysis (SCFE). METHODS: Children who underwent threaded screw prophylaxis of the uninvolved hip (Group P) and those who were observed with no prophylaxis (Group N) on presentation with unilateral SCFE were compared. Skeletal maturity was assessed with the Modified Oxford Score (MOS). Proximal femoral morphology was characterized by femoral neck length, femoral neck width, neck shaft angle, and trochanteric femoral head overlap percentage (TFHOP). Femoral head deformity at final follow-up was characterized as spherical (Type 1), mildly aspherical (Type 2), or ovoid (Type 3). Analysis of variance and t test were used to compare the groups. RESULTS: Thirty-eight patients in Group P and 17 patients in Group N met inclusion criteria. The average follow-up was 2.6 years. Group P was younger than Group N by an average of 9.6 months (P=0.04), but the MOS for skeletal maturity was not different between groups (P=0.15). Group P had significantly diminished neck length (P=0.008) and significantly increased relative trochanteric overgrowth as evidenced by increased trochanteric femoral head overlap percentage (P<0.001), but there was no difference between groups in neck shaft angle and neck width. No patient in Group N developed femoral head deformity (all Type 1). In Group P, 14 patients (37%) developed Types 2 and 3 deformity. In patients with MOS 16 in Group P, 60% (3/5) developed Type 2 deformity and 40% (2/5) developed Type 3 deformity. In patients with MOS 17 in Group P, 45% (5/11) had Type 2 deformity. CONCLUSIONS: Skeletally immature patients with an MOS of 16 and 17 are at high risk for developing the triad of relative trochanteric overgrowth, coxa breva, and femoral head asphericity with prophylactic threaded screw fixation for SCFE. When prophylactic surgery is indicated, consideration should be given to growth friendly fixation strategies to avoid iatrogenic proximal femoral deformity. LEVELS OF EVIDENCE: Level III-therapeutic retrospective comparative study.

Quantitative Assessment of Muscle Strength Following "Slow" Surgical Lengthening of the Medial Hamstring Muscles in Children With Cerebral Palsy.

BACKGROUND: Classic teaching for surgical lengthening of muscle contractures in children with cerebral palsy (CP) has emphasized complete correction of the deformity acutely, with immobilization of the targeted muscles in the fully corrected position. Clinical experience has led to the impression that the muscles are invariably weakened by this approach. We have developed an alternative technique for correction of contractures called slow surgical lengthening (SSL). The goal of the study was to determine the physical examination, kinematic, and muscle strength outcomes following SSL of the medial hamstring muscles in children with CP. METHODS: The study group included 41 children with CP who underwent SSL of the medial hamstring muscles as part of a comprehensive single-event multilevel surgery, who had preoperative and 1-year postoperative evaluations in our Motion Analysis Center, which included quantitative assessment of isometric and isokinetic muscle strength. RESULTS: All subjects were Gross Motor Function Classification System I and II. Mean age at the time of surgery was 10.8 years. The mean popliteal angle improved by 16.2 degrees (P<0.001) following SSL of the medial hamstrings. Sagittal plane kinematics following SSL of the medial hamstrings showed improvement of knee extension at initial contact of 10.2 degrees (P<0.001), decrease of peak knee flexion in mid-swing of 3.6 degrees (P=0.014), improved minimum knee flexion in stance of 4.9 degrees (P=0.002), and no significant change in mean anterior pelvic tilt (P=0.123). Mean peak isometric knee flexion torque remained unchanged from preoperative to postoperative studies (P=0.154), whereas mean peak isokinetic knee flexion torque significantly increased by 0.076 Nm/kg (P=0.014) following medial hamstring SSL. DISCUSSION: SSL was developed based upon clinical experience and improved understanding of the pathophysiology of skeletal muscle in children with CP. The SSL technique allows the tendinous tissue to separate spontaneously at the time of recession, but does not force further acute lengthening by intraoperative manipulation, thereby minimizing the damage to the underlying muscle. It is broadly believed that muscle weakness is inevitable following surgical lengthening. The current study shows that the SSL technique does not cause weakness. LEVEL OF EVIDENCE: Level IV-therapeutic.

Control of Walking Speed in Children With Cerebral Palsy.

BACKGROUND: Children's ability to control the speed of gait is important for a wide range of activities. It is thought that the ability to increase the speed of gait for children with cerebral palsy (CP) is common. This study considered 3 hypotheses: (1) most ambulatory children with CP can increase gait speed, (2) the characteristics of free (self-selected) and fast walking are related to motor impairment level, and (3) the strategies used to increase gait speed are distinct among these levels. METHODS: A retrospective review of time-distance parameters (TDPs) for 212 subjects with CP and 34 typically developing subjects walking at free and fast speeds was performed. Only children who could increase their gait speed above the minimal clinically important difference were defined as having a fast walk. Analysis of variance was used to compare TDPs of children with CP, among Gross Motor Function Classification System (GMFCS) levels, and children in typically developing group. RESULTS: Eight-five percent of the CP group (GMFCS I, II, III; 96%, 99%, and 34%, respectively) could increase gait speed on demand. At free speed, children at GMFCS I and II were significantly faster than children at GMFCS level III. At free speed, children at GMFCS I and II had significantly greater stride length than those at GMFCS levels III. At free speed, children at GMFCS level III had significantly lower cadence than those at GMFCS I and II. There were no significant differences in cadence among GMFCS levels at fast speeds. There were no significant differences among GMFCS levels for percent change in any TDP between free and fast walking. DISCUSSION: Almost all children with CP at GMFCS levels I and II can control the speed of gait, however, only one-third at GMFCS III level have this ability. This study suggests that children at GMFCS III level can be divided into 2 groups based on their ability to control gait speed; however, the prognostic significance of such categorization remains to be determined. LEVEL OF EVIDENCE: Diagnostic level II.

Longitudinal community walking activity in Duchenne muscular dystrophy.

INTRODUCTION: Natural history studies for Duchenne muscular dystrophy (DMD) have not included measures of community ambulation. METHODS: Step activity (SA) monitors quantified community ambulation in 42 boys (ages 4-16 years) with DMD with serial enrollment up to 5 years by using a repeated-measures mixed model. Additionally, data were compared with 10-meter walk/run (10mWR) speed to determine validity and sensitivity. RESULTS: There were significant declines in average strides/day and percent strides at moderate, high and pediatric high rates as a function of age (P < 0.05). Significant correlations for 10mWR versus high and low stride rates were found at baseline (P < 0.05). SA outcomes were sensitive to change over 1 year, but the direction and parameter differed by age group (younger vs. older). Changes in strides/day and percentages of high frequency and low frequency strides correlated significantly with changes in 10mWR speed (P < 0.05). DISCUSSION: Community ambulation data provide valid and sensitive real-world measures that may inform clinical trials. Muscle Nerve 57: 401-406, 2018.

Quantitative Assessment of Knee Progression Angle During Gait in Children With Cerebral Palsy.

BACKGROUND: Abnormal hip rotation is a common deviation in children with cerebral palsy (CP). Clinicians typically assess hip rotation during gait by observing the direction that the patella points relative to the path of walking, which is referred to as the knee progression angle (KPA). Two kinematic methods for calculating the KPA are compared with each other. Video-based qualitative assessment of KPA is compared with the quantitative methods to determine reliability and validity. METHODS: The KPA was calculated by both direct and indirect methods for 32 typically developing (TD) children and a convenience cohort of 43 children with hemiplegic type CP. An additional convenience cohort of 26 children with hemiplegic type CP was selected for qualitative assessment of KPA, performed by 3 experienced clinicians, using 3 categories (internal, >10 degrees; neutral, -10 to 10 degrees; and external, >-10 degrees). RESULTS: Root mean square (RMS) analysis comparing the direct and indirect KPAs was 1.14+0.43 degrees for TD children, and 1.75+1.54 degrees for the affected side of children with CP. The difference in RMS among the 2 groups was statistically, but not clinically, significant (P=0.019). Intraclass correlation coefficient revealed excellent agreement between the direct and indirect methods of KPA for TD and CP children (0.996 and 0.992, respectively; P<0.001).For the qualitative assessment of KPA there was complete agreement among all examiners for 17 of 26 cases (65%). Direct KPA matched for 49 of 78 observations (63%) and indirect KPA matched for 52 of 78 observations (67%). CONCLUSIONS: The RMS analysis of direct and indirect methods for KPA was statistically but not clinically significant, which supports the use of either method based upon availability. Video-based qualitative assessment of KPA showed moderate reliability and validity. The differences between observed and calculated KPA indicate the need for caution when relying on visual assessments for clinical interpretation, and demonstrate the value of adding KPA calculation to standard kinematic analysis. LEVEL OF EVIDENCE: Level II-diagnostic test.

Correction of Tibial Torsion in Children With Cerebral Palsy by Isolated Distal Tibia Rotation Osteotomy: A Short-term, In Vivo Anatomic Study.

BACKGROUND: Excessive internal or external tibial torsion is frequently present in children with cerebral palsy. Several surgical techniques have been described to correct excessive tibial torsion, including isolated distal tibial rotation osteotomy (TRO). The anatomic changes surrounding this technique are poorly understood. The goal of the study was to examine the anatomic relationship between the tibia and fibula following isolated distal TRO in children with cerebral palsy. METHODS: Twenty patients with 29 limbs were prospectively entered for study. CT scans of the proximal and distal tibiofibular (TF) articulations were obtained preoperatively, at 6 weeks, and 1 year postoperatively. Measurements of tibia and fibula torsion were performed at each interval. Qualitative assessments of proximal and distal TF joint congruency were also performed. RESULTS: The subjects with internal tibia torsion (ITT, 19 limbs) showed significant torsional changes for the tibia between preoperative, postoperative, and 1 year time points (mean torsion 13.21, 31.05, 34.84 degrees, respectively). Measurement of fibular torsion in the ITT treatment group also showed significant differences between time points (mean -36.77, -26.77, -18.54 degrees, respectively). Proximal and distal TF joints remained congruent at all time points in the study.Subjects with external tibia torsion (ETT, 10 limbs) showed significant differences between preoperative and postoperative tibial torsion, but not between postoperative and 1 year (mean torsion 54, 19.3, 23.3 degrees, respectively). Measurement of fibular torsion in the ETT treatment group did not change significantly between preoperative and postoperative, but did change significantly between postoperative and 1 year (mean torsion -9.8,-16.9, -30.7 degrees, respectively). Nine of 10 proximal TF joints were found to be subluxated at 6 weeks postoperatively. At 1 year, all 9 of these joints had reduced. CONCLUSIONS: Correction of ITT by isolated distal tibial external rotation osteotomy resulted in acute external fibular torsion. The fibular torsion alignment remodeled over time to accommodate the corrected tibial torsional alignment and reduce the strain associated with the plastic deformity of the fibula. Correction of ETT by isolated distal internal TRO resulted in acute subluxation of the proximal TF articulation in almost all cases. Subsequent torsional remodeling of the fibula resulted in correction of the TF subluxation in all cases. Acute correction of TT by isolated distal TRO occurs by distinct mechanisms, based upon the direction of rotational correction. LEVEL OF EVIDENCE: Level II-Diagnostic.

Relationship of Strength, Weight, Age, and Function in Ambulatory Children With Cerebral Palsy.

BACKGROUND: The natural history of ambulatory function in individuals with cerebral palsy (CP) consists of deterioration over time. This is thought to be due, in part, to the relationship between strength and weight, which is postulated to become less favorable for ambulation with age. METHODS: The study design was prospective, case series of 255 subjects, aged 8 to 19 years, with diplegic type of CP. The data analyzed for the study were cross-sectional. Linear regression was used to predict the rate of change in lower extremity muscle strength, body weight, and strength normalized to weight (STR-N) with age. The cohort was analyzed as a whole and in groups based on functional impairment as reflected by Gross Motor Function Classification System (GMFCS) level. RESULTS: Strength increased significantly over time for the entire cohort at a rate of 20.83 N/y (P=0.01). Weight increased significantly over time for the entire cohort at a rate of 3.5 kg/y (P<0.0001). Lower extremity STR-N decreased significantly over time for the entire cohort at a rate of 0.84 N/kg/y (P<0.0001). The rate of decline in STR-N (N/kg/y) was comparable among age groups of the children in the study group. There were no significant differences in the rate of decline of STR-N (N/kg/y) among GMFCS levels. There was a 90% chance of independent ambulation (GMFCS levels I and II) when STR-N was 21 N/kg (49% predicted relative to typically developing children). DISCUSSION: The results of this study support the longstanding clinically based observation that STR-N decreases with age in children with CP. This decrease occurs throughout the growing years, and across GMFCS levels I to III. Independent ambulation becomes less likely as STR-N decreases. This information can be used to support the rationale, and provide guidelines, for a range of interventions designed to promote ambulation in children with CP.

Understanding the capacity of children with congenital unilateral below-elbow deficiency to actuate their affected muscles.

In recent years, commercially available dexterous upper limb prostheses for children have begun to emerge. These devices derive control signals from surface electromyography (measure of affected muscle electrical activity, sEMG) to drive a variety of grasping motions. However, the ability for children with congenital upper limb deficiency to actuate their affected muscles to achieve naturalistic prosthetic control is not well understood, as compared to adults or children with acquired hand loss. To address this gap, we collected sEMG data from 9 congenital one-handed participants ages 8-20 years as they envisioned and attempted to perform 10 different movements with their missing hands. Seven sEMG electrodes were adhered circumferentially around the participant's affected and unaffected limbs and participants mirrored the attempted missing hand motions with their intact side. To analyze the collected sEMG data, we used time and frequency domain analyses. We found that for the majority of participants, attempted hand movements produced detectable and consistent muscle activity, and the capacity to achieve this was not dissimilar across the affected and unaffected sides. These data suggest that children with congenital hand absence retain a degree of control over their affected muscles, which has important implications for translating and refining advanced prosthetic control technologies for children.

De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.

We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 (TRPM3) missense variant, p.(Asn1126Asp), in a patient with developmental delay and manifestations of cerebral palsy (CP) using phenotype-driven prioritization analysis of whole-genome sequencing data with Exomiser. The variant is localized in the functionally important ion transport domain of the TRPM3 protein and predicted to impact the protein structure. Our report adds TRPM3 to the list of Mendelian disease-associated genes that can be associated with CP and provides further evidence for the pathogenicity of the variant p.(Asn1126Asp).

Rasch analysis of items from two self-report measures of motor function: determination of item difficulty and relationships with children's ability levels.

AIM: The aim of this article was to determine item measurement properties of a set of items selected from the Gillette Functional Assessment Questionnaire (FAQ) and the Pediatric Outcome Data Collection Instrument (PODCI) using Rasch analysis, and to explore relationships between the FAQ/PODCI combined set of items, FAQ walking scale level, Gross Motor Function Classification System (GMFCS) levels, and the Gait Deviation Index on a common measurement scale. METHOD: Rasch analysis was performed on data from a retrospective chart review of parent-reported FAQ and PODCI data from 485 individuals (273 males; 212 females; mean age 9 y 10 mo, SD 3 y 10 mo) who underwent first-time three-dimensional gait analysis. Of the 485 individuals, 289 had a diagnosis of cerebral palsy (104 GMFCS level I, 97 GMFCS level II, 69 GMFCS level III, and 19 GMFCS level IV). Rasch-based person abilities and item difficulties based on subgroups defined by the FAQ walking scale level, Gait Deviation Index, and the GMFCS level were compared. RESULTS: The FAQ/PODCI item set demonstrated necessary Rasch characteristics to support its use as a combined measurement scale. Item groupings at similar difficulty levels were consistent with the mean person abilities of subgroups based on FAQ walking scale level, Gait Deviation Index, and GMFCS level. INTERPRETATION: Rasch-derived person ability scores from the FAQ/PODCI combined item set are consistent with clinical measures. Rasch analysis provides insights that may improve interpretation of the difficulty of motor functions for children with disabilities.

A review of upper limb pediatric prostheses and perspectives on future advancements.

Many complex factors affect whether a child with a congenital upper limb deficiency will wear a prosthetic limb. Ultimately, for a child to wear and use their prosthesis, it must facilitate the effective performance of daily tasks and promote healthy social interactions. Although numerous pediatric devices are available, most provide a single open-close grasp (if a grasping function is available at all) and often offer nonanthropomorphic appearances, falling short of meeting these criteria. In this narrative review, we provide a critical assessment of the state of upper limb prostheses for children. We summarize literature using quality of life measures and categorize driving factors affecting prosthesis use into two main groupings: psychosocial and physical functioning. We define psychosocial functioning as factors related to social inclusion/exclusion, emotional function, independence, and school functioning. Physical functioning is defined as factors associated with the physical use of a prosthesis. The reviewed literature suggests that psychosocial domains of quality of life may be influenced by a congenital limb deficiency, and currently available prostheses provide little benefit in the physical functioning domains. Finally, we discuss technological advancements in adult prostheses that have yet to be leveraged for pediatric devices, including describing recently developed adult electric hands that may improve physical functioning through multiple grasping configurations and provide more hand-like cosmesis. We outline actions necessary to translate similar technologies for children and discuss further strategies to begin removing barriers to pediatric device adoption.

A Longitudinal Study of Quantitative Muscle Strength and Functional Motor Ability in Ambulatory Boys with Duchenne Muscular Dystrophy.

BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder, that is characterized by progressive muscle degeneration and loss of ambulation between 7-13 years of age. Novel pharmacological agents targeting the genetic defects and disease mechanisms are becoming available; however, corticosteroid (CS) therapy remains the standard of care. OBJECTIVE: The purpose of this longitudinal study was to elucidate the effect of CS therapy on the rate of muscle strength and gross motor skill decline in boys with DMD and assess the sensitivity of selected outcome measures. METHODS: Eighty-four ambulatory boys with DMD (49-180 months), 70 on CS, 14 corticosteroid naïve (NCS), participated in this 8-year multi-site study. Outcomes included; isokinetic dynamometry, the Standing (STD) and Walking/Running/jumping (WRJ) dimensions of the Gross Motor Function Measure (GMFM), and Timed Function Tests (TFTs). Nonlinear mixed modeling procedures determined the rate of change with age and the influence of steroids. RESULTS: Despite CS therapy the rate of decline in strength with age was significant in all muscle groups assessed. CS therapy significantly slowed decline in knee extensor strength, as the NCS group declined at 3x the rate of the CS group. Concurrently, WRJ skills declined in the NCS group at twice the rate of the CS group. 4-stair climb and 10 meter walk/run performance was superior in the boys on CS therapy. CONCLUSION: CS therapy slowed the rate of muscle strength decline and afforded longer retention of select gross motor skills in boys on CS compared to boys who were NCS. Isokinetic dynamometry, Walk/Run/Jump skills, and select TFTs may prove informative in assessing the efficacy of new therapeutics in ambulatory boys with DMD.

Gillette Functional Assessment Questionnaire 22-item skill set: factor and Rasch analyses.

AIM: To determine dimensionality and item-level properties of the Gillette Functional Assessment Questionnaire (FAQ) 22-item skill set using factor and Rasch analyses. METHOD: A retrospective review of parent-reported FAQ 22-item skill set data was conducted of 485 individuals (273 males, 212 females; mean age 9 y 10 mo, SD 3 y 10 mo), including 289 with cerebral palsy and 196 with a variety of other neuromusculoskeletal conditions with orthopedic impairments. Factor analyses to validate unidimensionality of the skill set and Rasch analyses to determine relative item difficulty, item and test level information, and content coverage of the item set were performed. Differential item functioning analysis of sub-groups based on sex, diagnosis grouping, and age was conducted. Precision of score estimates for the item set was analyzed. RESULTS: The FAQ 22-item skill set demonstrates unidimensional structure and good item fit statistics. No floor or ceiling effects were noted. Differential item functioning (DIF) based on age was noted for seven items, four items showed diagnosis group-related DIF, and one item sex-related DIF. Precision was adequate in the mid-range range of abilities. INTERPRETATION: Based on this analysis, the FAQ 22-item skill set is a hierarchical set of interval scaled items suitable for measuring locomotor skill ability in children.

Factor- and item-level analyses of the 38-item activities scale for kids-performance.

AIM: Children and adolescents highly value their ability to participate in relevant daily life and recreational activities. The Activities Scale for Kids-performance (ASKp) instrument measures the frequency of performance of 30 common childhood activities, and has been shown to be valid and reliable. A revised and expanded 38-item ASKp (ASKp38) version has been reported in recent literature and is currently used in clinical research. The aim of this paper is to assess the factor structure and item-level statistics of the ASKp38. METHOD: Our study used factor analyses and Rasch analyses to determine the item-set dimensionality and to calculate item-level statistics respectively, for existing ASKp38 data from 200 children (104 males; 96 females; mean age 12y 7mo; SD 2y 8mo; range 6-20y) with physical disabilities. The children had a variety of physical impairments including cerebral palsy (n = 105; range 8-13 y), limb salvage (n = 18; range 11-20y), arthrogryposis (n = 13; 6-17y), and other, including individuals with spina bifida and spinal cord injury (n = 64; 8-19 y). RESULTS: A two-factor model, with components of activities of daily living and play, most optimally fit the data. Item-fit statistics based on this two-factor model demonstrated adequate fit and content coverage. INTERPRETATION: The ASKp38 appears to consist of two factors, defined as (1) activities of daily living and (2) play, and may be used to measure the frequency of activity performance on two corresponding subscales.

Adults with cerebral palsy rank factors associated with quality of life and perceived impact of childhood surgery on adult outcomes.

BACKGROUND: Person-centered care concerns the values and perceptions of the patient in assessment of outcomes. Little is known about perceptions of adults with cerebral palsy (CP) concerning: the most important factors associated with quality of life, definitions of success, short- and long-term outcomes of childhood orthopedic care, and current needs for information surrounding childhood orthopedic care. METHODS: An online survey gathered information using structured and semi-structured questions. Descriptive statistics and content analysis summarized findings of structured questions and comments. RESULTS: A total of 71 adults with CP (44 women, median age range 30-39 years), with a variety of functional abilities, participated in the study. Priorities for a good life were clustered. There existed two groups: achievement orientation and relationship orientation. Good health and interpersonal relationships were priorities for both groups. Definitions of success included happiness, independence, meaningful relationships/activities, and mindfulness/lifelong-learning. Fifty-eight percent perceived a positive impact of childhood orthopedic care on current function. A positive perception was associated with being included in the decision making process (chi-square 25, p < .001). Suggestions to improve childhood orthopedic care included: more information about long-term outcomes, surgical timing, and alternatives to surgery, and improved service delivery models to prevent gaps in care across the lifespan. CONCLUSION: Ongoing conversations about how improvements from orthopedic surgery in childhood may not last through adolescence or adulthood are needed. The importance of impairment-based interventions should be contextualized within needs for health promotion and social engagement long-term. More research is needed on cost-benefit of childhood orthopedic surgery.Implications for RehabilitationPerceptions of being included in decisions about surgery as a child was associated with long term satisfaction.Consumer education is needed about how improvements gained in childhood may not persist through adolescence or into adulthood.Individual priorities for quality of life vary; and these priorities should be considered when weighing the cost benefit ratio of interventions.Clinicians should broaden the conversation to include how orthopedic surgery and rehabilitation afterwards could potentially impact health and well being in the future.

Three-dimensional functional workspace of thumb prehension.

BACKGROUND: Clinical assessment of thumb motion is challenging, due to the complex anatomy and motion of the thumb. It is especially difficult to measure hand movement during activity, and to measure the effects of surgery that changes the morphology of the thumb. A three-dimensional model of the hand may enable clinicians to better assess prehension and thumb motion at baseline, and following surgical intervention. METHODS: A kinematic model of the hand was developed to measure thumb and finger position during functional tasks, enabling the calculation of the volume of space in which prehension could occur. This method was validated by application to a mechanical model of the hand, and then applied to ten adult participants, using three-dimensional motion analysis with a marker array developed for the purpose of this study. FINDINGS: This method can be used to accurately measure three-dimensional thumb joint range of motion (RoM) and predicted functional workspace during functional activities. The thumb carpometacarpal joint was predominantly responsible for thumb position during functional tasks. Predicted functional workspace is proportional to hand morphometric measurements. INTERPRETATION: A kinematic model of the hand measures thumb RoM and predicts functional workspace during functional activities.