Neurostructural Consequences of Obstetric Brachial Plexus Palsy in Childhood.

Background: Obstetric brachial plexus palsy (OBPP) is a condition impairing limb function caused by birth injury. In 20 to 30% of cases, severe OBPP can cause life constraints in feeding, grooming, and clothing tasks. Objective: The present study, using voxel- and surface-based morphometry (VBM and SBM), examined the brain structure of pediatric OBPP patients to better understand the effects of this peripheral motor deficit on early brain development. Methods: Thirty-six T1-weighted images of 18 patients (2-17 years old, mean age = 11.3, 8 females) and 18 healthy controls (2-17 years old, mean age = 10.1, 8 females) were collected for this study. MRI data were processed and analyzed using the Statistical Parametric Mapping 12 (SPM12) toolbox. The custom pediatric tissue probability map was created with the CerebroMatic (COM) toolbox. The results were considered significant if they survived whole-brain family-wise error correction (P < .05). Results: We have found differences in grey matter volumes in the bilateral anterior hippocampus (left P < .001 and right P = .01) and left cerebellum exterior (Crus I) (P < .001). We have also found differences in cortical thickness in the bilateral parahippocampal gyri (left P = .001 and right P = .005) and right orbitofrontal cortex (OFC) (P < .001). Conclusions: These structural differences might be linked to the altered environmental adaptation that children with OBPP face due to their primary motor deficit. Our findings hint at a complex interplay between motor capabilities, brain structure development, and cognitive functions. However, more research combining neuroimaging, behavioral, cognitive, and clinical data is needed to support stronger conclusions on this subject.

The importance of brain mapping for rehabilitation in birth nonprogressive neuromuscular diseases.

While motor mapping has been extensively studied in acquired motor conditions, a lack has been observed in terms of research on neurological disorders present since birth, with damage to the spinal cord and peripheral nerves (hence, defined in this study as nonprogressive neuromuscular diseases). Despite an injury at the level below the brain, the subsequent changes in the motor system involve cortical reorganization. In the scientific community, the need for a comprehensive approach targeting the brain is increasingly recognized for greater motor recovery in these patients. Transcranial magnetic stimulation (TMS) and functional magnetic resonance imaging (fMRI) are the most utilized techniques for motor mapping. The knowledge obtained through motor mapping may be used to develop effective individual neuromodulation therapy that helps in functional motor recovery. This brief review compares the results of the brain mapping of a few existing studies in individuals with nonprogressive motor disorders of nonbrain origin present at birth to the brain mapping of individuals with similar acquired motor conditions. The review reveals some particular features in terms of central adaptation in individuals with birth conditions compared to their acquired counterparts, such as the nonsomatotopic presentation of involved muscles in the sensorimotor cortex and nonadjacent cortical areas. This topic is undoubtedly intriguing, justifying further research in the field. This review also discusses the benefits these patients can obtain from neuromodulation therapy addressed to the central nervous system and the importance of individual neurophysiological assessment in designing rehabilitation therapy for children with birth motor disorders.

Presentation of Rare Phenotypes Associated with the FKBP10 Gene.

Pathogenic variants in the FKBP10 gene lead to a spectrum of rare autosomal recessive phenotypes, including osteogenesis imperfecta (OI) Type XI, Bruck syndrome Type I (BS I), and the congenital arthrogryposis-like phenotype (AG), each with variable clinical manifestations that are crucial for diagnosis. This study analyzed the clinical-genetic characteristics of patients with these conditions, focusing on both known and newly identified FKBP10 variants. We examined data from 15 patients, presenting symptoms of OI and joint contractures. Diagnostic methods included genealogical analysis, clinical assessments, radiography, whole exome sequencing, and direct automated Sanger sequencing. We diagnosed 15 patients with phenotypes due to biallelic FKBP10 variants-4 with OI Type XI, 10 with BS I, and 1 with the AG-like phenotype-demonstrating polymorphism in disease severity. Ten pathogenic FKBP10 variants were identified, including three novel ones, c.1373C>T (p.Pro458Leu), c.21del (p.Pro7fs), and c.831_832insCG (p.Gly278Argfs), and a recurrent variant, c.831dup (p.Gly278Argfs). Variant c.1490G>A (p.Trp497Ter) was found in two unrelated patients, causing OI XI in one and BS I in the other. Additionally, two unrelated patients with BS I and epidermolysis bullosa shared identical homozygous FKBP10 and KRT14 variants. This observation illustrates the diversity of FKBP10-related pathology and the importance of considering the full spectrum of phenotypes in clinical diagnostics.

Similar Cognitive Skill Impairment in Children with Upper Limb Motor Disorders Due to Arthrogryposis Multiplex Congenita and Obstetrical Brachial Plexus Palsy.

Arthrogryposis multiplex congenita (AMC) and obstetrical brachial plexus palsy (OBPP) are motor disorders with similar symptoms (contractures and the disturbance of upper limb function). Both conditions present as flaccid paresis but differ from each other in the pathogenesis: AMC is a congenital condition, while OBPP results from trauma during childbirth. Despite this difference, these diseases are identical in terms of their manifestations and treatment programmes. We compared the cognitive skills of children with AMC and OBPP diagnoses with those of healthy children; we also compared the motor skills of impaired children with those of healthy ones. The patients in both groups significantly differed from the healthy children with regard to psychological parameters, such as 'visual memory capacity' and 'thinking'. Moreover, the two groups with children with AMC and OBPP significantly differed from each other in motor skill parameters, such as 'delayed motor development', 'general motor development', and the 'level of paresis'. Upper limb motor function in the OBPP children was less impaired compared to that of the AMC children. However, we did not find any significant differences in cognitive deficits between the AMC children and the OBPP children. This may indicate that motor impairment is more significant than the underlying cause for the development of cognitive impairment; however, the factors causing this phenomenon require further study (e.g., social environment, treatment, and rehabilitation programme).

Altered evoked responses for motor-related words in children with upper limb motor impairments.

OBJECTIVE: Obstetric brachial plexus palsy (OBPP) and amyoplasia, the classical type of arthrogryposis multiplex congenita, manifest themselves as highly limited mobility of the upper limb. At the same time, according to the embodiment cognition theories, the motor impairments might lead to the alteration of cognitive functions in OBPP/amyoplasia patients. In the current study, we examined whether OBPP/amyoplasia children exhibit altered processing of motor-related verbs. METHODS: We conducted a case-control study using clinical population and control children. Oddball series were used to elicit mismatch negativity (MMN) EEG responses. The series consisted of limb-related verbs (deviant stimuli) and matched pseudowords (standard stimuli). 27 patients and 32 control children were included in the analysis. RESULTS: We showed that MMN waveforms differed between OBPP/amyoplasia children and their control peers in the frontal and temporal electrodes when the stimuli contained hand-related verbs. In particular, the MMN peak latency in the OBPP/amyoplasia children was significantly delayed as compared with the healthy controls. At the same time, neither series with leg-related verbs nor series of pseudowords resulted in statistically significant differences. CONCLUSIONS: Our findings suggest altered processing of hand-related verbs in OBPP/amyoplasia children with hand-related disabilities. SIGNIFICANCE: Our results contribute to the growing evidence in support of the theory of embodied cognition, which proposes that various domains of cognition are shaped by bodily interactions with the environment.

Altered Cerebral Processing of Videos in Children with Motor Dysfunction Suggests Broad Embodiment of Perceptual Cognitive Functions.

Embodied cognition theory suggests that motor dysfunctions affect cognition. We examined this hypothesis by inspecting whether cerebral processing of movies, featuring both goal-directed movements and content without humans, differ between children with congenital motor dysfunction and healthy controls. Electroencephalography was recorded from 23 healthy children and 23 children with limited or absent arm movement due to either arthrogryposis multiplex congenita or obstetric brachial plexus palsy. Each individual patient exhibited divergent neural responses, disclosed by significantly lower inter-subject correlation (ISC) of brain activity, during the videos compared to the healthy children. We failed to observe associations between this finding and the motor-related content of the various video scenes, suggesting that differences between the patients and controls reflect modulation of perceptual-cognitive processing of videos by upper-limb motor dysfunctions not limited to the watching-mirroring of motor actions. Thus, perceptual-cognitive processes in the brain seem to be more robustly embodied than has previously been thought.

Aberrant Auditory and Visual Memory Development of Children with Upper Limb Motor Disorders.

The current study aimed to compare differences in the cognitive development of children with and without upper limb motor disorders. The study involved 89 children from 3 to 15 years old; 57 children with similar upper limb motor disorders and 32 healthy children. Our results showed that motor disorders could impair cognitive functions, especially memory. In particular, we found that children between 8 and 11 years old with upper limb disorders differed significantly from their healthy peers in both auditory and visual memory scales. These results can be explained by the fact that the development of cognitive functions depends on the normal development of motor skills, and the developmental delay of motor skills affects cognitive functions. Correlation analysis did not reveal any significant relationship between other cognitive functions (attention, thinking, intelligence) and motor function. Altogether, these findings point to the need to adapt general habilitation programs for children with motor disorders, considering the cognitive impairment during their development. The evaluation of children with motor impairment is often limited to their motor dysfunction, leaving their cognitive development neglected. The current study showed the importance of cognitive issues for these children. Moreover, early intervention, particularly focused on memory, can prevent some of the accompanying difficulties in learning and daily life functioning of children with movement disorders.

Feasibility and Challenges of Performing Magnetoencephalography Experiments in Children With Arthrogryposis Multiplex Congenita.

Arthrogryposis multiplex congenita (AMC) has recently drawn substantial attention from researchers and clinicians. New effective surgical and physiotherapeutic methods have been developed to improve the quality of life of patients with AMC. While it is clear that all these interventions should strongly rely on the plastic reorganization of the central nervous system, almost no studies have investigated this topic. The present study demonstrates the feasibility of using magnetoencephalography (MEG) to investigate brain activity in young AMC patients. We also outlined the general challenges and limitations of electrophysiological investigations on patients with arthrogryposis. We conducted MEG recordings using a 306-channel Elekta Neuromag VectorView system during a cued motor task performance in four patients with arthrogryposis, five normally developed children, and five control adults. Following the voice command of the experimenter, each subject was asked to bring their hand toward their mouth to imitate the self-feeding process. Two patients had latissimus dorsi transferred to the biceps brachii position, one patient had a pectoralis major transferred to the biceps brachii position, and one patient had no elbow flexion restoration surgery before the MEG investigation. Three patients who had undergone autotransplantation prior to the MEG investigation demonstrated activation in the sensorimotor area contralateral to the elbow flexion movement similar to the healthy controls. One patient who was recorded before the surgery demonstrated subjectively weak distributed bilateral activation during both left and right elbow flexion. Visual inspection of MEG data suggested that neural activity associated with motor performance was less pronounced and more widely distributed across the cortical areas of patients than of healthy control subjects. In general, our results could serve as a proof of principle in terms of the application of MEG in studies on cortical activity in patients with AMC. Reported trends might be consistent with the idea that prolonged motor deficits are associated with more difficult neuronal recruitment and the spatial heterogeneity of neuronal sources, most likely reflecting compensatory neuronal mechanisms. On the practical side, MEG could be a valuable technique for investigating the neurodynamics of patients with AMC as a function of postoperative abilitation.

Treatment and outcomes of arthrogryposis in the upper extremity.

Upper extremity involvement in patients with arthrogryposis multiplex congentia is quite frequent. Treatment initially consists of stretching and splinting as significant gains can be seen in the first years of life. The goal of any surgical procedure is to improve upper extremity function and performance of daily living activities, yet it is important to treat each patient individually and understand that areas do not always need to be addressed surgically. Despite overall lower functioning scores in this patient population, quality of life scores are comparable to the general aged adjusted population. This article will discuss the clinical presentation, treatment procedures and outcomes when addressing the upper extremities of patients presenting with arthrogryposis.

Treatment of the Upper Extremity Contracture/Deformities.

Patients with arthrogryposis multiplex congenita have a characteristic upper extremity resting posture consisting of internal rotation of the shoulders, elbow extension, flexed wrists, thumb-in palm deformities, and variable degrees of finger contractures. Treatment of these patients is aimed at improving independence and performance of activities of daily living. Although each area needs to be assessed independently for the most appropriate surgical procedure, often multiple areas can be addressed at the same operative setting. This limits the number of anesthetic exposures and cast immobilization time. The following is a synopsis of treatment strategies presented at the second international symposium on Arthrogryposis which took place in St Petersburg in September 2014.

Treatment of the Lower Extremity Contracture/Deformities.

Lower extremity deformities of patients with arthrogryposis multiplex congenita present a wide spectrum of severity and deformity combinations. Treatment goals range from merely ensuring comfortable seating and shoe wear, to fully independent and active ambulation, but the overarching intention is to help realize the patient's greatest potential for independence and function. Treatment of hip and knee contractures and dislocations has become more interventional, whereas treatment of foot deformities has paradoxically become much less surgical. This article synopsizes the treatment strategies presented in September 2014 in Saint Petersburg, Russia at the second international symposium on arthrogryposis.

Anaesthesiology for Children With Arthrogryposis.

Patients with arthrogryposis often require anesthesia for surgical procedures. Intubation can be challenging due to lack of visualization. Anesthetic maintenance is fairly routine. Pheripheral blocks are an important adjunct to postoperative pain management.

Treatment of Scoliosis Associated With Arthrogryposis Multiplex Congenita.

Scoliosis in children with arthrogryposis occurs in the minority of patients, but appears early, often present at birth. Curves can progress quickly. Treatment options include spine casting, bracing, expandable implant surgery, and spinal fusion. The goal is to allow as much chest growth and development as possible, along with a resulting well-balanced spine.

Summary of the 2nd International Symposium on Arthrogryposis, St. Petersburg, Russia, September 17-19, 2014.

Enormous progress has been made in understanding the etiology and therapies for arthrogryposis (multiple congenital contractures). A 2nd International Symposium on Arthrogryposis was sponsored by the Turner Institute in St. Petersburg, Russia. Olga Agranovich, Head of the Arthrogryposis Department of the Turner Institute, organized this special meeting. Care providers from multiple disciplines from all over the world representing 18 nations attended. Participants included: Pediatric orthopedic specialists, rehabilitation physicians, occupational therapists, physical therapists, medical geneticists, neurologists, craniofacial physicians, psychologists, developmental biologists, as well as representatives from parent support groups. The 1st symposium established the need for a collaborative and interdisciplinary approach to the treatment of arthrogryposis, engagement of parent support organizations, and the aim for more research. The Second Symposium highlighted the continuing need for more research on various therapies, identification of different types of arthrogryposis, standardized descriptions of severity, development of new orthotics, improved prenatal diagnosis, and studying adult outcome. Major progress has been made on both upper and lower limb treatments.