Growing up with Marshall syndrome: A case report from infancy to age 12.5 years.

Marshall syndrome is an extremely rare genetic disorder usually diagnosed in infancy with a prevalence of <1 in 1 million. Based on the literature reviewed, this is the first case report to provide a longitudinal history of a child with Marshall syndrome (from birth to age 12.5 years). This longitudinal case report arose in part from desires of this child's parents to share the story of their early fears at her initial diagnosis and compare those to how well she has turned out.

A perspective on adverse health outcomes after breast cancer treatment in women with spinal cord injury.

Aging women face increased risks of both breast cancer and spinal cord injury (SCI). Unique treatment challenges for this population warrant consideration. Despite advances in breast cancer treatments, significant adverse health outcomes continue to occur. Cancer treatments can be detrimental to the quality of life of able-bodied women, but more so for women living with pre-existing SCI. The goal of this Perspective Paper is to inform rehabilitation professionals about the needs of women with SCI treated for breast cancer. Specific objectives were: (1) give an overview of breast cancer treatment-related adverse outcomes that need special attention in women with SCI; and (2) inspire researchers to study the consequences of breast cancer-related health conditions in women with SCI. We identified SCI-specific considerations for undergoing breast cancer surgery, chemotherapy, radiation and endocrine therapy. This paper attempts to raise awareness regarding these issues due to the lack of research attention they have received.

Neurological and Dexterity Assessments in a Woman with Radiation-Induced Brachial Plexopathy After Breast Cancer.

The aim of this case report is to inform clinicians about radiation-induced brachial plexopathy, a rare complication that often presents well after treatment with inconsistent symptoms and manifestations. It is often a diagnosis of exclusion when a neoplastic or other cause cannot be identified. Electrodiagnostic testing is particularly useful. Here, the results of a standardized grip and pinch strength assessment and dexterity test are presented in a woman whose symptoms first appeared 20 years after completing treatments for stage IIIA breast cancer.

Psychogenic movement disorders in children and adolescents: an update.

This short communication provides an update on childhood psychogenic movement disorders (PMD), focusing on descriptive studies and case reports from 2008 to 2018. Known also as functional movement/motor disorders, PMD diagnoses are relatively common in adults but less so in children. In group studies over the past decade, sample prevalence of childhood PMD ranged from 2.8 to 23.1%, with a higher percentage of girls in most studies (consistent with adult PMD literature). Common types of PMD included tremor (32.4%), dystonia (29.5%), and myoclonus (24.3%). Precipitating events for PMD onset included H1N1 influenza vaccinations, family/child stressors, anxiety/depression in the child or parent, panic attacks, behavior disorders, injury or accident, sexual abuse of the child or family member, death of a close relative, parental discord, domestic violence, school-related problems, medical illness/surgery, sleep disturbance, and participation in competitive sport or dance. The most frequently mentioned treatments were cognitive behavioral therapy, psychotherapy, relaxation techniques, and physiotherapy.Conclusion: Although additional cases of childhood PMD have been published over the past decade, little new information has appeared. There is still no "diagnostic gold standard," making an accurate estimate of prevalence virtually impossible and contributing to confusion among pediatricians when trying to identify children with PMD. What is Known: • Psychogenic movement disorders (PMD) occur in children as well as adults. • The most common types of childhood PMD are tremor, dystonia, and myoclonus. What is New: • The most common childhood PMD treatments were cognitive behavioral therapy, psychotherapy, physiotherapy, and relaxation techniques (2008-2018). • Due to lack of a standardized definition for PMD, confusion exists as to which movement disorders to include. With the inability to reliably diagnose PMD and the ambiguity as to which movement disorders it comprises, it is difficult to determine the most effective treatments.

The Past, Present, and Future of Neurorehabilitation: From NUSTEP Through IV STEP and Beyond.

PURPOSES: To present the history and aims of the STEP conferences; describe the interdependence of prevention, prediction, plasticity, and participation; reflect on where we stand today regarding those 4 Ps; and discuss how future neurorehabilitation should look for individuals with movement disorders. KEY POINTS: Physical therapists have focused primarily on tertiary prevention, emphasizing primary/secondary prevention far less. Predicting optimal response to intervention is essential for primary prevention. Research examining neurorehabilitation effects mediated by brain plasticity is evolving from an emphasis on impairment outcomes toward examination of participation outcomes. CLINICAL PRACTICE RECOMMENDATIONS:: (1) Capitalize on primary and secondary prevention. (2) Administer simple, environmentally relevant predictive measures. (3) Partner with researchers to examine exercise-induced brain plasticity effects via neuroimaging. (4) Encourage physical activity to promote secondary prevention of lifestyle-related diseases and enhance participation. (5) Integrate psychological/social sciences with physiological sciences to move forward with advances in mindful health and patient-centered practices.

Early motor delays as diagnostic clues in autism spectrum disorder.

Early identification of autism facilitates referral for early intervention services, shown to be effective in enhancing parent-child interaction as well as adaptive behavior, communication, and socialization. Traditional hallmarks for the diagnosis of autism spectrum disorder (ASD) include deficits in social communication and social interaction as well as stereotypic or repetitive behavioral patterns. Research during the past decade suggests that developmental motor delays during early childhood may also be important predictors of this difficult-to-make diagnosis. The purpose of this short communication is to describe specific research findings about developmental motor delays and other neuromotor concerns that may contribute to the early diagnosis of ASD and thus hasten referral for early therapeutic intervention. CONCLUSION: In that there is reasonable consensus that motor delays during the first year of life may represent a prodrome of ASD, pediatricians should not rule out the possibility of ASD in infants with concerning motor behaviors. What is Known: • Early identification of autism facilitates referral for early intervention services. • Traditional hallmarks for diagnosis of autism spectrum disorder (ASD) include deficits in social communication and social interaction as well as repetitive patterns of behavior. What is New: • Recent research suggests that developmental motor delays during early childhood may also be important predictors of ASD. • Pediatricians should consider the possibility of ASD in infants with motor delays or other concerning motor behaviors.

The Past, Present, and Future of Neurorehabilitation: From NUSTEP Through IV STEP and Beyond.

PURPOSES: To present the history and aims of the STEP conferences; describe the interdependence of prevention, prediction, plasticity, and participation; reflect on where we stand today regarding those 4 Ps; and discuss how future neurorehabilitation should look for individuals with movement disorders. KEY POINTS: Physical therapists have focused primarily on tertiary prevention, emphasizing primary/secondary prevention far less. Predicting optimal response to intervention is essential for primary prevention. Research examining neurorehabilitation effects mediated by brain plasticity is evolving from an emphasis on impairment outcomes toward examination of participation outcomes. CLINICAL PRACTICE RECOMMENDATIONS:: (1) Capitalize on primary and secondary prevention. (2) Administer simple, environmentally relevant predictive measures. (3) Partner with researchers to examine exercise-induced brain plasticity effects via neuroimaging. (4) Encourage physical activity to promote secondary prevention of lifestyle-related diseases and enhance participation. (5) Integrate psychological/social sciences with physiological sciences to move forward with advances in mindful health and patient-centered practices.

Motor skills of 5-year-old children who underwent early cardiac surgery.

UNLABELLED: Aims To describe the motor proficiency of 5-year-old children who underwent early infant cardiac surgery and had atypical infant gross motor development. To identify risk factors for motor dysfunction at 5 years of age. METHODS: A total of 33 children (80.5% participation rate) were re-assessed by a physiotherapist blinded to the diagnosis and previous clinical course, using standardised motor assessment tools. RESULTS: Motor proficiency was categorised as below average or well below average in 41% of the study patients. Approximately 30% of the cohort had balance deficits. Motor abilities at 4 months and 2 years of age were associated with motor proficiency at age 5; however, atypical motor development in infancy was not predictive of below-average or well below-average scores at age 5. Risk factors associated with motor ability at age 5 included respiratory support and intensive care length of stay in the 1st year of life, asymmetrical crawling in infancy, and cyanotic CHD at age 5. CONCLUSIONS: Despite differences from other reported studies in terms of cohort diagnoses and age at surgery, the rate of motor dysfunction was similar, with rates much higher than expected in typical children. Further assessment is needed in later childhood to determine the significance of these findings.

Early identification of motor delay: Family-centred screening tool.

OBJECTIVE: To describe the Harris Infant Neuromotor Test (HINT), an infant neuromotor test using Canadian norms published in 2010 that could be used to screen for motor delay during the first year of life. QUALITY OF EVIDENCE: Extensive research has been published on the intrarater, interrater, and test-retest reliability and the content, concurrent, predictive, and known-groups validity of the HINT, as well as on the sensitivity, specificity, and positive and negative predictive values of parental concerns, as assessed by the HINT. Most evidence is level II. MAIN MESSAGE: Diagnosing motor delays during the first year of life is important because these often indicate more generalized developmental delays or specific disabilities, such as cerebral palsy. Parental concerns about their children's motor development are strongly predictive of subsequent diagnoses involving motor delay. CONCLUSION: Only through early identification of developmental motor delays, initially with screening tools such as the HINT, is it possible to provide referrals for early intervention that could benefit both the infant and the family.

[Dépistage précoce des retards du développement moteur: Outil de dépistage axé sur la famille].

OBJECTIF: Décrire le test HINT (Harris Infant Neuromotor Test), un test d'évaluation du développement neuromoteur chez les nourrissons publié en 2010, qui s'appuie sur les normes canadiennes et peut être utilisé pour dépister les retards du développement moteur durant la première année de la vie. QUALITÉ DES DONNÉES: D'abondantes recherches ont été publiées sur la fiabilité intra-évaluateur, inter-évaluateur et test-retest ainsi que sur la validité convergente, prédictive, du contenu et des groupes connus du test HINT, de même que sur la sensibilité, la spécificité et les valeurs prédictives négatives et positives des inquiétudes des parents, telles qu'évaluées par le test HINT. La plupart des données probantes sont de niveau II. MESSAGE PRINCIPAL: Il est important de diagnostiquer les retards du développement moteur durant la première année de vie, car ils sont souvent le signe de retards du développement généralisés ou de déficiences précises, telles que la paralysie cérébrale. Les inquiétudes des parents quant au développement moteur de leur enfant sont une valeur prédictive robuste de diagnostics subséquents de retard du développement moteur. CONCLUSION: Seul le dépistage précoce des retards du développement moteur, initialement par l'entremise d'outils de dépistage comme le test HINT, permet de recommander le patient à une intervention précoce qui profiterait tant à l'enfant qu'à sa famille.

Agreement Between a Physical Therapist and an Orthopedic Surgeon in Children Referred for Gait Abnormalities.

PURPOSE: To compare diagnostic and treatment agreement between a physical therapist (PT) and a pediatric orthopedic surgeon for gait variations in children. METHODS: This pilot study involved children referred to a pediatric orthopedic surgeon for typical gait variations. A PT and an orthopedic surgeon individually assessed each child, making conclusions regarding diagnoses, treatment, and follow-up. Agreement was determined using κ values. RESULTS: Twenty-five children (9 months to 11 years) were assessed. The PT and the surgeon had substantial agreement on contributors to the atypical gait patterns (76% agreement; κ = 0.67; 95% confidence interval [CI] = 0.45-0.90) and almost perfect agreement on underlying diagnosis of gait variation (93% agreement; κ = 0.89; 95% CI = 0.75-1.0), with substantial agreement for treatment (82% agreement; κ = 0.72; 95% CI = 0.47-0.97) and follow-up recommendations (84% agreement; κ = 0.63; 95% CI = 0.24-1.0). CONCLUSIONS: A pediatric PT and an orthopedic surgeon had substantial to almost perfect agreement for diagnoses, treatment, and follow-up in children referred for gait abnormalities.

A plea for developmental motor screening in Canadian infants.

Motor delays during infancy may be the first observable sign of a specific neurodevelopmental disability or of more global developmental delays. The earlier such disorders are identified, the sooner these infants can be referred for early intervention services. Although developmental motor screening is strongly recommended in other Western countries, Canada has yet to provide a developmental surveillance and screening program. Ideally, screening for motor disabilities should occur as part of the 12-month well-baby visit. In advance of that visit, parents can be provided with a parent-screening questionnaire that they can complete and bring with them to their 12-month office visit. Interpretation of the parent-completed questionnaire takes only 2 min to 3 min of the health care professional's time and, based on the results, can either reassure parents that their infant is developing typically, or lead to a referral for standardized motor screening or assessment by a paediatric physical or occupational therapist.

Les retards de développement des nourrissons peuvent constituer le premier signe observable de déficience neurodéveloppementale spécifique ou plus globale. Plus ce type de trouble est dépisté rapidement, plus ces nourrissons pourront être orientés rapidement vers des services d'intervention précoces. Même si le dépistage des troubles de développement moteur est fortement recommandé dans d'autres pays occidentaux, le Canada n'a pas encore prévu de programme de surveillance et de dépistage des troubles de développement. Dans l'idéal, le dépistage des déficiences motrices devrait faire partie du bilan de santé à 12 mois. Avant ce bilan, les parents peuvent recevoir un questionnaire de dépistage qu'ils peuvent remplir et apporter avec eux au rendez-vous en cabinet à 12 mois. Le professionnel de la santé ne doit consacrer que deux à trois minutes de son temps à l'interprétation du questionnaire rempli par les parents et, d'après les résultats, il peut soit rassurer les parents en leur disant que leur nourrisson se développe normalement, soit les orienter vers un dépistage ou une évaluation standardisé du développement effectué par un pédiatre ou un ergothérapeute spécialisé en pédiatrie.

Use of Thickened Liquids to Manage Feeding Difficulties in Infants: A Pilot Survey of Practice Patterns in Canadian Pediatric Centers.

Improved survival rates of sick or preterm infants have resulted in an increase of observed feeding difficulties. One common method for managing feeding difficulties in infants is to manipulate liquid viscosity by adding thickening agents to formula or expressed breast milk. Concerns regarding the lack of clinical practice guidelines for the use of this strategy have been raised in the literature and in clinical settings for several years. This study aimed to survey feeding clinicians working in major Canadian pediatric centers to identify current practice patterns for use of thickened liquids in managing feeding difficulties of infants and to justify the need for standardization of this practice. A web-based pilot survey was developed using Fluidsurveys software. The questionnaire contained 37 questions targeting the process of prescribing thickeners, choice of thickener, awareness of issues, and inconsistencies raised in the literature about thickener use and how to address them. A total of 69 questionnaire responses were analyzed using descriptive statistics and inductive thematic analysis methods. Our study results indicate that thickened liquids continue to be broadly used to manage feeding difficulties in Canadian infants, despite numerous areas of concern related to their use raised by our respondents. While clear practice patterns for assessment and management were observed among the respondents, some areas of practice did not reflect recent published research or experts' opinion. Further research to develop a systematic approach for assessment, intervention, and follow-up is warranted to guide clinicians in this complex decision-making process.

Measuring head circumference: Update on infant microcephaly.

OBJECTIVE: To provide an evidence-based update emphasizing the importance of measuring head circumference (HC) in infants, with a focus on microcephaly. QUALITY OF EVIDENCE: PubMed and EMBASE (OvidSP) were searched. Search terms used were head circumference and infants and measurement; microcephaly and infants and measurement; idiopathic microcephaly and infants; and congenital microcephaly and infants. Most of the references for this review were published in 2000 or later. Most evidence is level II. MAIN MESSAGE: Serial measurement of HC should be incorporated into routine well-child care. Measure the distance around the back of the child's head with a nonelastic tape measure held above the eyebrows and ears, and plot the measurement on an age- and sex-appropriate growth chart. Microcephaly is HC more than 2 SD below the mean. The most common disability associated with microcephaly is intellectual delay; other common concomitant conditions include epilepsy, cerebral palsy, language delay, strabismus, ophthalmologic disorders, and cardiac, renal, urinary tract, and skeletal anomalies. An interdisciplinary approach to microcephaly is warranted. Although there are no specific interventions to enhance brain growth, dietary or surgical interventions might be helpful in some cases. Infants with microcephaly who show developmental delays might benefit from early intervention programs or developmental physical and occupational therapy. CONCLUSION: Early identification of HC concerns by family physicians can be a critical first step in identifying disorders such as microcephaly, leading to referral to pediatric specialists and, as needed, provision of family-centred early intervention services.

Challenges in trying to implement an early intervention program for infants with congenital heart disease.

PURPOSE: To describe challenges in trying to implement a physical therapy-based early intervention program for infants with congenital heart disease. METHODS: Neonates with cyanotic congenital heart disease who had elective or emergency cardiac surgery at age 28 days or less participated in the study. Families were offered hospital-based physical therapy intervention from infant age of 3 months. Feasibility and efficacy of intervention were to be evaluated at 8 months. RESULTS: Study recruitment was protracted and then stopped. Anticipated sample size was limited by survival (86%) and recruitment rates (75%); cardiorespiratory and neurological complications led to lengthy admissions, precluding study participation. In addition, geographic constraints and families' general take-up of the services offered limited ability of those recruited to receive intervention at planned frequency and intensity. CONCLUSIONS: Overall, data collected demonstrated infeasibility to evaluate effectiveness of hospital-based physical therapy intervention for this cohort of infants. Nonetheless, valuable data were gathered about factors leading to nonparticipation.

Prescription and adherence to lymphedema self-care modalities among women with breast cancer-related lymphedema.

PURPOSE: To profile the prescription for and adherence to breast cancer-related lymphedema (BCRL) self-care modalities among breast cancer (BrCa) survivors with BCRL in a 12-month randomized weightlifting trial. METHODS: We developed a questionnaire that assessed prescription for and adherence to 10 BCRL self-care modalities that included physical therapy exercise, pneumatic compression pump, medication, lymphedema bandaging, arm elevation, self-administered lymphatic drainage, therapist-administered lymphatic drainage, compression garments, skin care, and taping. We measured prescription for and adherence to BCRL self-care modalities at baseline, 3, 6, and 12 months. Longitudinal logistic regression was used to estimate the odds ratio (OR) and 95 % confidence interval (95 % CI) associated with prescription for and adherence to BCRL modalities over time. RESULTS: This study included 141 BrCa survivors with BCRL. Women were prescribed an average of 3.6 ± 2.1 BCRL self-care modalities during the study. The prescription for therapist-administered lymphatic drainage (OR = 0.92, 95 % CI 0.88-0.96), pneumatic compression pump use (OR = 0.94, 95 % CI 0.89-0.98), and bandaging (OR = 0.96, 95 % CI 0.93-0.99) decreased over 12 months of follow-up. No other prescribed BCRL self-care modalities changed during the study. Over 12 months, the average adherence to all BCRL self-care modalities varied with 13, 24, 32, and 31 % of women reporting <25, 25-49, 50-74, and ≥75 % adherence, respectively. Over 12 months, there was a noticeable change from high to low adherence in self-administered lymphatic drainage, such that there was a 15 % increased likelihood of adherence <25 % compared to ≥75 % (OR = 1.15 (95 % CI 1.05-1.26); p = 0.002). The adherence patterns of all other modalities did not change over follow-up. CONCLUSIONS: Our findings suggest the prescription for BCRL self-care modalities is variable. The average adherence to BCRL self-care was non-optimal. Future research is necessary to prepare BrCa survivors with the knowledge, skills, abilities, and resources necessary to care for this lifelong condition.

Brachial plexopathy after breast cancer: A persistent late effect of radiotherapy.

Radiation-induced brachial plexopathy (RIBP) is an iatrogenic, progressively disabling, and often very late effect of adjuvant radiotherapy most commonly seen in breast cancer survivors but also in those treated for lymphoma, lung, and head and neck cancers. In late-onset RIBP following breast cancer, the nerve injury is chronic and irreversible, occurring more commonly when axillary and/or supraclavicular nodes have been irradiated, as well as the breast/chest wall. RIBP is manifested initially by paresthesia, hypoesthesia, dysesthesia, and later by weakness in the ipsilateral hand with those symptoms progressing distally to proximally up through the shoulder. Depressed/absent deep tendon reflexes in the upper extremity and muscle fasciculations occur also. Neither patients nor their health care providers tend to associate these unusual neurological symptoms with cancer treatments received ≥20 years prior, often failing to link these sensory-motor symptoms with radiotherapy decades before. Because long-term follow-up of these patients now typically falls to general practitioners, many cases may be missed or misdiagnosed because of the rarity of this disorder. Physiatrists and allied rehabilitation professionals must be aware of this progressively disabling, incurable condition to provide appropriate diagnoses and compensatory rehabilitation therapies. Additionally, professional oncology organizations should include RIBP in their long-term, survivorship guidelines for breast cancer. Researchers examining the iatrogenic late effects of radiotherapy should extend their follow-up periods well beyond the current 5-6 years to ascertain the true incidence of RIBP today. Rehabilitation providers must continue to advocate for awareness, diagnosis, and management of iatrogenic outcomes experienced by long-term cancer survivors.

The Appraisal of Clinical Practice Guidelines for Breast Cancer-Related Lymphedema.

Background: Approaches to screening, assessment, and treatment of breast cancer-related lymphedema (BCRL) vary widely. We evaluated overall quality of clinical practice guidelines (CPGs) for managing BCRL using the Appraisal of Guidelines for REsearch and Evaluation II (AGREE II) tool, and relevance of consensus recommendations for the Canadian health context. Methods and Results: We searched electronic databases, gray literature, national lymphedema frameworks, and expert opinions, to identify lymphedema CPGs, printed/published from January 2013 to October 2021. Using AGREE II, six health care professionals reviewed CPGs for consensus. Domain-specific AGREE II quality consensus scores were required (≥70% for Rigor of Development; ≥ 60% for Stakeholder Involvement and Editorial Independence; and ≥50% for Clarity of Presentation, Applicability, Scope, and Purpose). Results and overall recommendations from the CPGs were summarized and synthesized. Nine CPGs met inclusion criteria for review. Wide variability of evidence-based recommendations, and limited clinical considerations were found. Scope and Purpose, and Clarity of Presentation were adequate in six of nine CPGs; Stakeholder Involvement in seven of nine CPGs; and Editorial Independence in three of nine CPGs. Across all CPGs, Applicability was minimally reported. Only the Queensland Health CPG met quality consensus scores for Rigor and Development; however, the focus was limited to compression therapy. Conclusions: No CPG reviewed could be adopted for the Canadian health context. The proposed Canadian BCRL CPG will focus on stakeholder engagement, methodology, and implementation/evaluation. Using AGREE II allowed for assessment of quality of methods used to develop identified CPGs from other countries before consideration of adoption in a Canadian Context.