Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita.

INTRODUCTION: The majority of arthrogryposis multiplex congenita (AMC) and lethal forms of AMC such as foetal akinesia deformation sequence (FADS) cases are missed prenatally. We have demonstrated the additional value of foetal motor assessment and evaluation in a multidisciplinary team for the period 2007-2016. An applied care pathway was developed for foetuses presenting with joint contracture(s) in one anatomic region (e.g., talipes equinovarus [TEV]), more than one body part with non-progressive contractures and motility (AMC) and with deterioration over time (FADS). METHODS: The multidisciplinary team of Amsterdam University Medical Centre Expertise Centre FADS and AMC developed the care pathway. Additional tools are provided including a motor assessment by ultrasound examination and a post-mortem assessment form. RESULTS: An eight-step care pathway is presented with a proposed timing for prenatal sonographic examination, genetic examinations, multidisciplinary meetings, prenatal and postnatal counselling of the parents by a specialist also treating after birth, and the follow-up of prenatal and postnatal findings with counselling for future pregnancies. DISCUSSION/CONCLUSION: The scheduled serial structural and motor sonograpahic assessment together with follow-up examinations and genetic analysis should be tailored per prenatal centre per available resources. The multidisciplinary care pathway may pave the way to increase the detection rate and diagnosis of isolated contracture(s), TEV with underlying genetic causes, and the rare phenotypes AMC/FADS and prompt treatment after birth within expertise teams.

Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.

OBJECTIVE: The diagnosis of fetal akinesia deformation sequence (FADS) is a challenge. Motor assessment is of additional value to advanced ultrasound examinations (AUE) for in utero FADS diagnosis before 24 weeks of gestation. METHODS: All consecutive fetuses with greater than or equal to two contractures on the 20 week structural anomaly scan (2007-2016) were included. Findings at AUE, including motor assessment were analysed and related to outcome. RESULTS: Sixty-six fetuses fulfilled the inclusion criteria. On the basis of the first AUE, FADS was suspected in 13 of 66, arthrogryposis multiplex congenita (AMC) in 12 of 66, bilateral pes equinovares (BPEV) in 40 of 66, and Holt-Oram syndrome in one of 66. On the basis of the first motor assessment, the suspected diagnosis changed in 19 of 66, in 13 of 66 worsening to FADS, six of 66 amelioration from FADS, and confirmed FADS in seven of 13. The result was 20 FADS, seven AMC, and 38 BPEV. Second AUE in 44 fetuses showed additional contractures in two of eight FADS, and one intrauterine fetal death (IUFD). The second motor assessment changed the diagnosis in three of 43, one worsening from BPEV into FADS, two ameliorations from FADS, and confirmed FADS in seven by deterioration of motility. The result was nine FADS, six AMC, and 29 BPEV. CONCLUSION: The results suggest that motor assessment has additional value to distinguish between FADS, AMC, and BPEV.

Outcome of medial hamstring lengthening in children with spastic paresis: A biomechanical and morphological observational study.

To improve gait in children with spastic paresis due to cerebral palsy or hereditary spastic paresis, the semitendinosus muscle is frequently lengthened amongst other medial hamstring muscles by orthopaedic surgery. Side effects on gait due to weakening of the hamstring muscles and overcorrections have been reported. How these side effects relate to semitendinosus morphology is unknown. This study assessed the effects of bilateral medial hamstring lengthening as part of single-event multilevel surgery (SEMLS) on (1) knee joint mechanics (2) semitendinosus muscle morphology and (3) gait kinematics. All variables were assessed for the right side only. Six children with spastic paresis selected for surgery to counteract limited knee range of motion were measured before and about a year after surgery. After surgery, in most subjects popliteal angle decreased and knee moment-angle curves were shifted towards a more extended knee joint, semitendinosus muscle belly length was approximately 30% decreased, while at all assessed knee angles tendon length was increased by about 80%. In the majority of children muscle volume of the semitendinosus muscle decreased substantially suggesting a reduction of physiological cross-sectional area. Gait kinematics showed more knee extension during stance (mean change ± standard deviation: 34±13°), but also increased pelvic anterior tilt (mean change ± standard deviation: 23±5°). In most subjects, surgical lengthening of semitendinosus tendon contributed to more extended knee joint angle during static measurements as well as during gait, whereas extensibility of semitendinosus muscle belly was decreased. Post-surgical treatment to maintain muscle belly length and physiological cross-sectional area may improve treatment outcome of medial hamstring lengthening.

Humeral retroversion and shoulder muscle changes in infants with internal rotation contractures following brachial plexus birth palsy.

AIM: To examine humeral retroversion in infants who sustained brachial plexus birth palsy (BPBI) and suffered from an internal rotation contracture. Additionally, the role of the infraspinatus (IS) and subscapularis (SSc) muscles in the genesis of this bony deformation is explored. METHODS: Bilateral magnetic resonance imaging (MRI) scans of 35 infants (age range: 2-7 mo old) with BPBI were retrospectively analyzed. Retroversion was measured according to two proximal axes and one distal axis (transepicondylar axis). The proximal axes were: (1) the perpendicular line to the borders of the articular surface (humeral centerline); and (2) the longest diameter through the humeral head. Muscle cross-sectional areas of the IS and SSc muscles were measured on the MRI-slides representing the largest muscle belly. The difference in retroversion was correlated with the ratio of muscle-sizes and passive external rotation measurements. RESULTS: Retroversion on the involved side was significantly decreased, 1.0° vs 27.6° (1) and 8.5° vs 27.2° (2), (P < 0.01), as compared to the uninvolved side. The size of the SSc and IS muscles on the involved side was significantly decreased, 2.26 cm² vs 2.79 cm² and 1.53 cm² vs 2.19 cm², respectively (P < 0.05). Furthermore, the muscle ratio (SSc/IS) at the involved side was significantly smaller compared to the uninvolved side (P = 0.007). CONCLUSION: Even in our youngest patient population, humeral retroversion has a high likelihood of being decreased. Altered humeral retroversion warrants attention as a structural change in any child being evaluated for the treatment of an internal rotation contracture.

Knee Moment-Angle Characteristics and Semitendinosus Muscle Morphology in Children with Spastic Paresis Selected for Medial Hamstring Lengthening.

To increase knee range of motion and improve gait in children with spastic paresis (SP), the semitendinosus muscle (ST) amongst other hamstring muscles is frequently lengthened by surgery, but with variable success. Little is known about how the pre-surgical mechanical and morphological characteristics of ST muscle differ between children with SP and typically developing children (TD). The aims of this study were to assess (1) how knee moment-angle characteristics and ST morphology in children with SP selected for medial hamstring lengthening differ from TD children, as well as (2) how knee moment-angle characteristics and ST morphology are related. In nine SP and nine TD children, passive knee moment-angle characteristics and morphology of ST (i.e. fascicle length, muscle belly length, tendon length, physiological cross-sectional area, and volume) were assessed by hand-held dynamometry and freehand 3D ultrasound, respectively. At net knee flexion moments above 0.5 Nm, more flexed knee angles were found for SP compared to TD children. The measured knee angle range between 0 and 4 Nm was 30% smaller in children with SP. Muscle volume, physiological cross-sectional area, and fascicle length normalized to femur length were smaller in SP compared to TD children (62%, 48%, and 18%, respectively). Sixty percent of the variation in knee angles at 4 Nm net knee moment was explained by ST fascicle length. Altered knee moment-angle characteristics indicate an increased ST stiffness in SP children. Morphological observations indicate that in SP children planned for medial hamstring lengthening, the longitudinal and cross-sectional growth of ST muscle fibers is reduced. The reduced fascicle length can partly explain the increased ST stiffness and, hence, a more flexed knee joint in these SP children.

Satisfaction and pain levels after proximal femoral valgus osteotomy according to Schanz in patients with cerebral palsy and hip dislocation.

Outcome after Schanz osteotomy in the treatment of chronic hip dislocation in children with cerebral palsy was evaluated. Medical charts and questionnaires were used to assess pain, functional outcome and satisfaction. A total of 24 children, with a mean age of 13.8 years (± 8.9), were included in the study, out of which 11 were classified with Gross Motor Function Classification System (GMFCS) level IV and 13 with GMFCS level V. Current pain was comparable to patients without chronic hip dislocation, and satisfaction was intermediate. Functional outcome improved in several domains. Longer postoperative time was associated with improved pain and satisfaction. The Schanz osteotomy allowed improvement in pain levels; however, it did not completely meet caregiver's expectation and has high reoperation rates.

Pediatric Traumatic Brain Injury and Attention Deficit.

BACKGROUND: We investigated the impact of pediatric traumatic brain injury (TBI) on attention, a prerequisite for behavioral and neurocognitive functioning. METHODS: Children aged 6 to 13 years who were diagnosed with TBI (n = 113; mean 1.7 years postinjury) were compared with children with a trauma control injury (not involving the head) (n = 53). TBI severity was defined as mild TBI with or without risk factors for complicated TBI (mild(RF+) TBI, n = 52; mild(RF-) TBI, n = 24) or moderate/severe TBI (n = 37). Behavioral functioning was assessed by using parent and teacher questionnaires, and the Attention Network Test assessed alerting, orienting, and executive attention. Ex-Gaussian modeling determined the contribution of extremely slow responses (lapses of attention) to mean reaction time (MRT). RESULTS: The TBI group showed higher parent and teacher ratings of attention and internalizing problems, higher parent ratings of externalizing problems, and lower intelligence than the control group (P < .05, d ≥ 0.34). No effect of TBI on alerting, orienting, and executive attention was observed (P ≥ .55). MRT was slower in the TBI group (P = .008, d = 0.45), traced back to increased lapses of attention (P = .002, d = 0.52). The mild(RF-) TBI group was unaffected, whereas the mild(RF+) TBI and moderate/severe TBI groups showed elevated parent ratings of behavior problems, lower intelligence, and increased lapses of attention (P ≤ .03, d ≥ 0.48). Lapses of attention fully explained the negative relation between intelligence and parent-rated attention problems in the TBI group (P = .02). CONCLUSIONS: Lapses of attention represent a core attention deficit in children with mild(RF+) TBI (even in the absence of intracranial pathology) or moderate/severe TBI, and relate to daily life problems after pediatric TBI.

Elbow Flexion Contractures in Childhood in Obstetric Brachial Plexus Lesions: A Longitudinal Study of 20 Neurosurgically Reconstructed Infants with 8-Year Follow-up.

OBJECTIVE: Little knowledge exists on the development of elbow flexion contractures in children with obstetrical brachial plexus lesion (OBPL). This study aims to evaluate the prognostic significance of several neuromuscular parameters in infants with OBPL regarding the later development of elbow flexion contractures. METHODS: Twenty infants with OBPL with insufficient signs of recovery in the first months of life who were neurosurgically reconstructed were included. At a mean age of 4.6 months, the following neuromuscular parameters were assessed: existence of flexion contractures, cross-sectional area (CSA) of upper arm muscles on MRI, Narakas classification, EMG results, and elbow muscle function using the Gilbert score. In childhood at follow-up at mean age of 7.7 years, we measured the amount of flexion contractures and the upper arm peak force (Newton). Statistical analysis is used to assess relations between these parameters. RESULTS: Flexion contractures of greater than 10 degrees occurred in 55% of our patient group. The relation between the parameters in infancy and the flexion contractures in childhood is almost nonexistent. Only the Narakas classification was related to the development of flexion contractures in childhood (p = 0.006). Infant muscle CSA is related to childhood peak muscle force. CONCLUSION: The role of infancy upper arm muscle hypotrophy/hypertrophy, reinnervation, and early elbow muscle function in the development of childhood elbow contractures remains unclear. In this cohort prediction of childhood flexion, contractures were not possible using infancy neuromuscular parameters. We suggest that contractures might be an adaptive process to optimize residual muscle function.

Degree of Contracture Related to Residual Muscle Shoulder Strength in Children with Obstetric Brachial Plexus Lesions.

BACKGROUND AND OBJECTIVES: Little is known about the relation between residual muscle strength and joint contracture formation in neuromuscular disorders. This study aimed to investigate the relation between residual muscle strength and shoulder joint contractures in children with sequelae of obstetric brachial plexus lesion (OBPL). In OBPL a shoulder joint contracture is a frequent finding. We hypothesize that residual internal and external rotator strength and their balance are related to the extent of shoulder joint contracture. METHODS: Clinical assessment was performed in 34 children (mean 10.0 years) with unilateral OBPL and Narakas classes I-III. External and internal rotation strengths were measured with the shoulder in neutral position using a handheld dynamometer. Strength on the affected side was given as percentage of the normal side. Contracture was assessed by passive internal and external rotations in degrees (in 0° abduction). Mallet classification was used for active shoulder function. RESULTS: External and internal rotation strengths on the affected side were approximately 50% of the normal side and on average both equally affected: 56% (SD 18%) respectively 51% (SD 27%); r = 0.600, p = 0.000. Residual strengths were not related to passive internal or external rotation (p > 0.200). Internal rotation strength (r = - 0.425, p <0.05) was related to Narakas class. Mallet score was related to external and internal rotation strengths (r = 0.451 and r = 0.515, respectively; p < 0.01). CONCLUSION: The intuitive notion that imbalances in residual muscle strength influence contracture formation cannot be confirmed in this study. Our results are of interest for the understanding of contracture formation in OBPL.

Malunion of distal radius fractures in children.

BACKGROUND AND PURPOSE: Distal forearm fractures in children have excellent remodeling potential. The current literature states that 15° is the maximum acceptable angulation limit, though studies focusing on remodeling capacity above this value are lacking. We present data on the remodeling process in children with distal radius malunions with an angulation of ≥ 15°. PATIENTS AND METHODS: Retrospectively, we radiographically evaluated the remodeling in 33 children (aged 3-14 years) with 40 distal radius fractures healed in ≥ 15° angulation in the dorsovolar (DV) plane (n = 32) and/or the radioulnar (RU) plane (n = 8). Malunion angulation at the start and at last follow-up was measured on AP and lateral-view radiographs. Mean follow-up time was 9 (3-29) months. RESULTS: All fractures showed remodeling. Mean DV malunion angulation was 23° (15-49) and mean RU malunion angulation was 21° (15-33). At follow-up, this had remodeled to mean 8° (-2 to 21) DV and 10° (3-17) RU. Mean remodeling speed (RS) was 2.5° (0.4-7.6) per month. There was a negative correlation between RS and remodeling time (RT) and a positive correlation between RS and malunion angulation. The relationship between RS and RT was exponential. RS was not found to be related to age or sex. INTERPRETATION: Remodeling speed decreases exponentially over time. Its starting value depends on the amount of angulation of distal radius fractures. This compensates for the increased need for remodeling in severely angulated fractures.

Retrospective radiographic evaluation of treatment results of developmental dysplasia of the hip in walking-age children.

UNLABELLED: We evaluated treatment results of 22 children (32 hips) with idiopathic hip dislocation after walking age in two Dutch academic hospitals. The Tönnis classification was used preoperatively. Outcome was measured using the Severin and Kalamchi classification. The mean age at treatment was 24 months and the mean follow-up was 6.8 years. In 24 hips (73%), a perfect outcome was found (Kalamchi score≤1 and Severin score of 1). A fair or a poor outcome according to Severin (≥3) was found in five hips (15%). Treatment of a hip dislocation beyond 18 months of age usually results in adequate hip development with limited avascular necrosis. LEVEL OF EVIDENCE: Level III.

Scapular deformity in obstetric brachial plexus palsy and the Hueter-Volkmann law; a retrospective study.

BACKGROUND: The Hueter-Volkmann law describes growth principles around joints and joint deformation. It states that decreased stress leads to increased growth and that excessive stress leads to growth retardation. Aim of this study was to test the possible results of this principle by measuring the effect of dorsal humeral head subluxation on scapular growth in children with Obstetrical Brachial Plexus Lesions (OBPL). According to the Hueter-Volkmann law, subluxation should result in decrease of growth of the dorsal length of the scapula (by increased dorsal pressure) and increase of the ventral length (decreased pressure). METHODS: 58 children (mean age 20 months, range 1-88 month) with unilateral OBPL and good quality MRI of both shoulders were included. On MRI, humeral head subluxation, joint deformation, and ventral and dorsal scapular lengths were measured. Data were expressed as a ratio of the normal side. RESULTS: In affected scapulas both ventral and dorsal side were smaller compared to the normal side. Reduction of growth on the affected side was more marked on the dorsal side than on the ventral side (6.5 mm respectively 4.5 mm, p < 0.001). The balance of growth reduction as expressed by the ratio of ventral and dorsal length was strongly related to subluxation (R(2) = 0.33, p < 0.001) and age (R(2) = 0.19, p < 0.001). CONCLUSIONS: The Hueter-Volkmann law is incompletely active in subluxated shoulders in OBPL. Dorsal subluxation indeed leads to decrease of growth of the dorsal length of the scapula. However, decreased stress did not lead to increased growth of the ventral length of the scapula.

Musculoskeletal growth in the upper arm in infants after obstetric brachial plexus lesions and its relation with residual muscle function.

AIM: Denervation after obstetric brachial plexus lesion (OBPL) is associated with reduced musculoskeletal growth in the upper arm. The aim of this study was to investigate whether reduced growth of upper arm flexor and extensor muscles is related to active elbow function and humeral length. METHOD: In this study, 31 infants age less than 6 months (mean age 4.3mo; range 2.1-5.9mo; 17 males; 14 females;) with unilateral OBPL (Narakas class I, 19; II, 3; III, 2; and IV, 7) treated at the VU medical centre, in whom neurosurgical reconstruction was considered were prospectively studied using magnetic resonance imaging of both arms at a mean age of 4.3 months. Humeral length and the cross-sectional area (CSA) of elbow flexor and extensor muscles were measured in both upper arms. Paresis of elbow function was estimated when the infants were a mean age of 4.5 months using the Gilbert score. RESULTS: Both flexor and extensor CSAs were significantly smaller on the affected side than on the unaffected side (88% [SD 32%], p=0.020, and 88% [SD 24%], p=0.001 respectively), as was humeral length (96% [SD 7%], p=0.005) (unaffected side 100% in all cases). There was no relation between the reduction in flexor and extensor CSA and residual muscle function. In 17 out of 31 patients, hypertrophy of flexor and/or extensor muscles was observed. Humeral length was not related to muscle parameters. INTERPRETATION: Denervation has different effects on muscle growth and function as well as bone growth. In young infants with an OBPL, muscle size is not a predictor of muscle function. Flexion contractures of the elbow later in childhood may not be explained by a dominance of flexor muscle mass in infants.

Early effects of muscle atrophy on shoulder joint development in infants with unilateral birth brachial plexus injury.

AIM: Shoulder deformities in children with a birth brachial plexus injury (BBPI) are caused by muscle imbalances; however, the underlying mechanisms are unclear. The aim of this study was to assess the early interactions between shoulder muscles and shoulder joint development. METHOD: In a retrospective magnetic resonance imaging (MRI) study of 36 infants (21 males, 15 females) younger than 12 months (mean 4.8 mo) with unilateral BBPI, volumes and thicknesses of standardized segments of the infraspinatus, subscapularis, and deltoid muscles were measured in both shoulders and expressed as ratios of pathological/unaffected side. The relation between muscle ratios and humeral head subluxation, passive external rotation, glenoid version, and deformity was analysed. RESULTS: Compared with the unaffected side, the muscles of the affected side were of significantly smaller volume and thickness. The subscapularis was the most severely affected muscle, its volume being only 64% (SD 21%) and its thickness only 79% (SD 23%) of the corresponding values on the unaffected side (p < 0.001). Severe subluxation was predicted by the combination of low infraspinatus and subscapularis volume ratios (r(2) = 0.223; p = 0.014), but not by muscle thickness ratios. Subluxation was related to passive external rotation (p < 0.05), glenoid version (p < 0.01), and deformity (p < 0.01). INTERPRETATION: In infants with BBPI, muscle size is decreased during in the first months of life by both atrophy and, possibly, by a reduction in the number of sarcomeres in series. These effects are strongly related to shoulder joint subluxation.

An MRI study on the relations between muscle atrophy, shoulder function and glenohumeral deformity in shoulders of children with obstetric brachial plexus injury.

BACKGROUND: A substantial number of children with an obstetric brachial plexus lesion (OBPL) will develop internal rotation adduction contractures of the shoulder, posterior humeral head subluxations and glenohumeral deformities. Their active shoulder function is generally limited and a recent study showed that their shoulder muscles were atrophic. This study focuses on the role of shoulder muscles in glenohumeral deformation and function. METHODS: This is a prospective study on 24 children with unilateral OBPL, who had internal rotation contractures of the shoulder (mean age 3.3 years, range 14.7 months to 7.3 years). Using MR imaging from both shoulders the following parameters were assessed: glenoid form, glenoscapular angle, subluxation of the humeral head, thickness and segmental volume of the subscapularis, infraspinatus and deltoid muscles. Shoulder function was assessed measuring passive external rotation of the shoulder and using the Mallet score for active function. Statistical tests used are t-tests, Spearman's rho, Pearsons r and logistic regression. RESULTS: The affected shoulders showed significantly reduced muscle sizes, increased glenoid retroversion and posterior subluxation. Mean muscle size compared to the normal side was: subscapularis 51%, infraspinatus 61% and deltoid 76%. Glenoid form was related to infraspinatus muscle atrophy. Subluxation was related to both infraspinatus and subscapularis atrophy. There was no relation between atrophy of muscles and passive external rotation. Muscle atrophy was not related to the Mallet score or its dimensions. CONCLUSION: Muscle atrophy was more severe in the subscapularis muscle than in infraspinatus and deltoid. As the muscle ratios are not related to passive external rotation nor to active function of the shoulder, there must be other muscle properties influencing shoulder function.

Interobserver reliability of the Mallet score.

The interobserver reliability of the Mallet score for active shoulder function was assessed by three experienced observers in a group of 30 children with an obstetric brachial plexus lesion (mean age 7.1 years, range 4.5-10 years). Interobserver reliability, measured using weighted kappa, was good. Kappa varied between 0.37 and 0.84 and differed between the different aspects of the Mallet score and different pairs of observers. In decreasing order, mean weighted kappa was 0.75 for abduction, 0.73 for hand to neck, 0.67 for hand to spine, 0.6 for external rotation and 0.53 for hand to mouth.

Treatment of internal rotation contracture of the shoulder in obstetric brachial plexus lesions by subscapular tendon lengthening and open reduction: early results and complications.

In this prospective study of 19 consecutive children, the operative treatment of internal rotation contracture of the shoulder in obstetric brachial plexus lesions by subscapular tendon lengthening and open reduction of the humeral head is evaluated. The average age of the children was 3.7 years and average follow-up was 20 months. Active shoulder function, as measured by the Mallet score, improved significantly in the dimensions of external rotation, hand-mouth movement and hand-neck movement. However, eight of the 19 children developed a severe, functionally disturbing external rotation contracture of the shoulder. This contracture was found predominantly in children who had a lower preoperative Mallet score for abduction and hand-back movement.

Measuring secondary deformities of the shoulder in children with obstetric brachial plexus lesion: reliability of three methods.

In this study the interobserver reliability of three established measurement methods to objectify secondary deformities of the shoulder in obstetric brachial plexus lesion was evaluated (OBPL). Magnet resonance imaging scans of 30 affected shoulders of 29 OBPL children, mean age 1 year 9 months (range 3 months to 6.3 years) were used. The reliability of the measurement of glenoid version had a standard deviation of differences of measurements between 5.4 and 5.9 degrees. The reliability of the glenoid form showed a kappa value between 0.52 and 0.64, and the reliability of the humeral subluxation had a standard deviation between 7.7 and 12.4 degrees. The measurement methods showed no systematic bias.