-
Journal of Developmental and Behavioral...X is a 22-month-old White male infant with a complex medical history, including diagnoses of FBXO11 mutation, hypotonia, restrictive lung disease and mild intermittent...
X is a 22-month-old White male infant with a complex medical history, including diagnoses of FBXO11 mutation, hypotonia, restrictive lung disease and mild intermittent asthma, laryngotracheomalacia, obstructive sleep apnea (OSA), feeding difficulties with a history of aspiration, gastroesophageal reflux disease (GERD), and developmental delays. X's medical presentation has resulted in multiple prior medical admissions for respiratory failure due to acute illnesses, procedures and treatments including gastrojejunostomy (GJ) tube dependence, supraglottoplasty to reshape tissues of the upper larynx, and the use of biphasic positive airway pressure (BiPAP) at night and room air during the day when he is at baseline. In addition, he has nocturnal events characterized by significant agitation, screaming, crying, body stiffening and limb movements with pauses in breathing, mouth breathing, restless sleep, and difficulty waking in the morning with concomitant daytime fatigue despite above treatments for OSA. There is no history of congenital heart disease or sudden unexplained death. Family history is noncontributory because parents are negative for the FBXO11 variant.X's sleep disruption has led to significant sleep deficits for both X and his caregivers, who spend much of the night strategizing on how to console him. X has undergone several sleep studies, starting when X was aged 4 months, at several children's hospitals across the nation to determine the cause of his chronic sleep disturbance, which yielded limited information and treatment success. As an infant, X received a medical workup and was subsequently treated with a proton pump inhibitor (PPI) for reflux. At 12 months, he was diagnosed with disordered sleep with myoclonic jerks and started on melatonin and gabapentin for involuntary movements. At 13 months, gabapentin was weaned back because of intolerance, and at 15 months, nortriptyline and clonidine were started because of worsening symptoms to target potential neuropathic pain. While most of his symptoms were at night, he had occasional daytime screaming episodes, particularly when experiencing illness. Gabapentin and clonidine were stopped because nortriptyline seemed most effective.At 17 months, the results from a sleep study led to a diagnosis of night terrors, and several clinicians agreed that X's sleep disruption was behavioral in nature. At this time, an infant mental health consultant met with a sleep psychologist on the family's behalf to support family in considering systematic desensitization therapy to increase tolerance to wearing his BiPAP mask, as well as other behavioral and sleep hygiene strategies, which were tried on several occasions and again, resulted in limited improvement in functioning.At 19 months, X's multidisciplinary team reconsidered a night terror diagnosis after a failed trial of clonazepam and pursued a differential diagnosis of periodic limb movement disorder (PLMD). X trialed gabapentin again, but this time only a nighttime dose, per sleep medicine and psychiatry recommendation. While this brought some temporary relief from nighttime distress, despite increasing to the highest dose for age and weight (15 mg/kg/dose), this became less effective, and he was weaned off at 22 months. He had been on iron supplementation since age 6 months and received an iron infusion at 22 months because of persistently low ferritin levels and PLMD in sleep.At 24 months, X was briefly trialed on levetiracetam. While no evidence for seizures on EEG was present, this medication was chosen for involuntary movements and genetic risk for seizures. However, this medication was not useful. At 25 months, an evaluation with a movement disorder physiatrist resulted in a diagnosis of nocturnal paroxysmal dystonia, and he was started on baclofen, which has provided some, but not complete relief to nighttime symptoms. Parents are reporting he has more "good nights" than "bad nights," but "bad nights" come in stretches of a few days in length with no known trigger or relief.Most recently, X was evaluated by general genetics. Whole exome sequencing (WES) was pursued which revealed a pathogenic de novo variant in FBXO11 and provides a likely cause for his neurodevelopmental phenotype. However, he has some features not explained by FBX011; thus, reanalysis of his WES was performed and revealed a de novo variant of uncertain significance in RAF1. Because pathogenic variants in RAF1 have been associated with dilated cardiomyopathy and Noonan spectrum disorder, it was recommended that X be followed periodically in a cardiac genetics clinic. Family is well connected into the FBXO11 community, including supportive Facebook groups. Parents have shared that they do not feel X's breathing issues and pain fit with the phenotype of other children with FBXO11 mutations.X is also enrolled in a medical child care program to facilitate development and social-emotional functioning and receives learning, speech, occupational, physical, and feeding therapy while in attendance. Despite periods of absence due to contracting numerous viral illnesses over the past several months, X continues to make progress across developmental therapies and happily engages when at the program.What additional diagnostic tests and treatment should be considered to better understand X's medical and behavioral presentation? What are the implications of chronic sleep deprivation and stress on the behavior and development of infant with X's profile? What are important psychosocial considerations because it relates to children with medical complexity (CMC), particularly for X and his family to support caregiver, family, and X's quality of life and overall well-being?
Topics: Infant; Humans; Male; Gabapentin; Quality of Life; Clonidine; Nortriptyline; Sleep Apnea, Obstructive; Sleep Wake Disorders; Sleep; Dyskinesias; Iron; Seizures; Protein-Arginine N-Methyltransferases; F-Box Proteins
PubMed: 38290114
DOI: 10.1097/DBP.0000000000001251 -
Orthopedic NursingPhysical Medicine and Rehabilitation (PM&R) is a rapidly expanding field. Physicians who practice PM&R are known as physiatrists and provide care primarily for patients...
Physical Medicine and Rehabilitation (PM&R) is a rapidly expanding field. Physicians who practice PM&R are known as physiatrists and provide care primarily for patients who have disabilities or physical impairments affecting the musculoskeletal system, brain, and spinal cord. Physiatrists may work in an inpatient or outpatient setting, with outpatient physiatrists being an invaluable resource in treating patients experiencing pain. It is worthwhile to refer patients experiencing hip, knee, or back pain to a PM&R specialist because of their skill in making specific and accurate diagnoses, as well as providing a wide range of modalities to treat pain and augment function such as management of pain medications, osteopathic manipulative therapy, trigger point injections, intra-articular steroid injections, orthobiologic therapy, and interventional spinal procedures. Emphasis is on the use of the least invasive modality before employing more invasive treatments. The need for physiatrists to help individuals maximize function and enhance quality of life is increasing with the aging population, expanding workforce of older adults, and a growing population of people with a disability, especially since the COVID-19 pandemic.
Topics: Humans; Aged; Pandemics; Quality of Life; Knee Joint; Physical and Rehabilitation Medicine; Back Pain
PubMed: 38266261
DOI: 10.1097/NOR.0000000000000999 -
BMC Public Health Jan 2024Low back pain (LBP) is a prevalent musculoskeletal disorder with a wide range of etiologies, ranging from self-limiting conditions to life-threatening diseases. Various...
INTRODUCTION
Low back pain (LBP) is a prevalent musculoskeletal disorder with a wide range of etiologies, ranging from self-limiting conditions to life-threatening diseases. Various modalities are available for the diagnosis and management of patients with LBP. However, many of these health services, known as low-value care (LVC), are unnecessary and impose undue financial costs on patients and health systems. The present study aimed to explore the perceptions of service providers regarding the facilitators and barriers to reducing LVC in the management of LBP in Iran.
METHODS
This qualitative descriptive study interviewed a total of 20 participants, including neurosurgeons, physiatrists, orthopedists, and physiotherapists, who were selected through purposive and snowball sampling strategies. The collected data were analyzed using the thematic content analysis approach.
RESULTS
Thirty-nine sub-themes, with 183 citations, were identified as barriers, and 31 sub-themes, with 120 citations, were defined as facilitators. Facilitators and barriers to reducing LVC for LBP, according to the interviewees, were categorized into five themes, including: (1) individual provider characteristics; (2) individual patient characteristics; (3) social context; (4) organizational context; and (5) economic and political context. The ten most commonly cited barriers included unrealistic tariffs, provider-induced demand, patient distrust, insufficient time allocation, a lack of insurance coverage, a lack of a comprehensive referral system, a lack of teamwork, cultural challenges, a lack of awareness, and defensive medicine. Barriers such as adherence to clinical guidelines, improving the referral system, improving the cultural status of patients, and facilitators such as strengthening teamwork, developing an appropriate provider-patient relationship, improving the cultural status of the public, motivating the patients, considering an individualized approach, establishing a desirable payment mechanism, and raising the medical tariffs were most repeatedly stated by participants.
CONCLUSION
This study has pointed out a great number of barriers and facilitators that shape the provision of LVC in the management of LBP in Iran. Therefore, it is essential for relevant stakeholders to consider these findings in order to de-implement LVC interventions in the process of LBP management.
Topics: Humans; Low Back Pain; Iran; Low-Value Care; Qualitative Research; Health Services Accessibility
PubMed: 38233835
DOI: 10.1186/s12889-023-17597-1 -
European Geriatric Medicine Apr 2024We assess masticatory performance using color-changeable chewing gum, which shifts from yellow-green to red upon chewing. Previous studies used a colorimeter to reveal...
PURPOSE
We assess masticatory performance using color-changeable chewing gum, which shifts from yellow-green to red upon chewing. Previous studies used a colorimeter to reveal the cut-off a* values of the gum's color (a* represents the degree of color between red and green) to determine which foods are masticable (masticable meat, masticable soft side dish, and inadequate masticatory performance). Since a more convenient method is required, we examined the validity and reliability of visual measurement using a color scale to indicate masticable foods by observing the chewing gum's color.
METHODS
Fifty patients (male, 48%), aged ≥ 65 (mean, 82.6) years were enrolled. Using color-changeable chewing gum, three groups were formed according to the cut-off a* values: masticable meat, masticable soft side dish, and inadequate masticatory performance. For the color scale classification, one physiatrist and one dietitian simultaneously, individually, and visually determined the chewing gum color and classified it into one of the three groups. Criterion-related validity was evaluated using the kappa coefficient of agreement between the results from the two methods. Inter-rater reliability was examined using the kappa coefficient of agreement between the three groups judged by the two raters on a color scale.
RESULTS
The kappa coefficients of the agreement for the classifications were 0.908 and 0.909 for the physiatrist and dietitian, respectively. The inter-rater agreement between two raters on the color scale was 0.938 for the kappa coefficient.
CONCLUSION
The color scale indicated masticable foods without a colorimeter. This method can be useful in older adult facilities and homes.
Topics: Humans; Male; Aged; Chewing Gum; Reproducibility of Results; Color; Meat; Mastication
PubMed: 38214866
DOI: 10.1007/s41999-023-00916-5 -
Journal of Clinical Medicine Jan 2024Ultrasound-guided thread carpal tunnel release (TCTR) was proposed as an effective and safe surgical technique with faster recovery and fewer complications. This study...
Ultrasound-guided thread carpal tunnel release (TCTR) was proposed as an effective and safe surgical technique with faster recovery and fewer complications. This study was conducted to confirm the long-term outcomes after TCTR and verify its clinical effectiveness in severe carpal tunnel syndrome (CTS) for more insights into TCTR procedure. A total of 168 TCTR procedures were performed in 152 individual patients by two physiatrists during 36-month period. In an assessment of 82 hands, surgical outcomes of 2 years after TCTR could be obtained, and the grade 6 CTS group of 21 hands, classified as extremely severe grade by Bland's classification, was compared with other severity groups (grade 1-5). The Boston Carpal Tunnel Syndrome Questionnaire (BCTQ) was used to assess surgical outcomes. No adverse events occurred in all cases including the case of severe CTS and anatomical variants. TCTR showed significant improvement in BCTQ scale within 1-2 weeks, which continued up to 2 years with no recurrence ( < 0.01). Although slower and more progressive than the other severity group, there was also significant improvement relative to the BCTQ scale around 4 weeks after procedure in the grade 6 CTS group ( < 0.05). With the familiarity of ultrasound, ultrasound-guided TCTR is an effective and reliable surgical treatment for CTS in long-term outcomes and in severe CTS.
PubMed: 38202268
DOI: 10.3390/jcm13010262 -
Cureus Dec 2023The article explores the significance of the timely transition of a child living with congenital heart disease (CHD) to adult care and the role played by... (Review)
Review
The article explores the significance of the timely transition of a child living with congenital heart disease (CHD) to adult care and the role played by multidisciplinary care. Due to recent healthcare advances, more children with CHD survive to adulthood without surgical intervention. This survival is mainly due to the lesion being compatible with life and its management being done medically. However, further management requires meeting the child's needs and helping him transition to become a healthy, independent adult with almost equal life expectancy as his counterparts. The article reviews the comprehensive framework of transition through multidisciplinary care. Highlighting the necessity of training physicians to acquire expertise in the management of CHD is a foundational aspect of this review article. Introduction to transition requires assessment of the child's needs through all phases of life and informative counseling of both parents and child. It highlights the approach to educating patients and families with the knowledge to safeguard compliance. Multidisciplinary collaboration from various fields such as cardiology, pediatric physiatrist, nursing, and psychology has been stressed. Patients also need to cultivate skills in self-management and independence and be educated to comprehend their condition, including the potential health issues. This collaborative and multidisciplinary process necessitates the cooperation of patients, families, and the adult congenital heart disease (ACHD) team. Emphasis has been given to individualized counseling for girls to address their sexual health. The article also highlights the possible obstacles and how to tackle them to improve healthcare adherence. Timely transition and follow-up can be measured using various tools or through indices measuring the quality of life and average life expectancy. The global patterns of transition to ACHD care have also been emphasized, as well as the need for research studies to develop reliable indicators for assessing transition success.
PubMed: 38186454
DOI: 10.7759/cureus.50179 -
Indian Pediatrics Jan 2024Neurodevelopmental disorders, as per DSM-V, are described as a group of conditions with onset in the development period of childhood. There is a need to distinguish the...
Consensus Statement of the IAP - Neurodevelopmental Chapter On Neurodevelopmental Disorders Habilitation Process: Strategic Plan for Prevention, Early Detection and Early Intervention.
JUSTIFICATION
Neurodevelopmental disorders, as per DSM-V, are described as a group of conditions with onset in the development period of childhood. There is a need to distinguish the process of habilitation and rehabilitation, especially in a developing country like India, and define the roles of all stakeholders to reduce the burden of neurodevelopmental disorders.
PROCESS
Subject experts and members of Indian Academy of Pediatrics (IAP) Chapter of Neurodevelopmental Pediatrics, who reviewed the literature on the topic, developed key questions and prepared the first draft on guidelines. The guidelines were then discussed by the whole group through online meetings, and the contentious issues were discussed until a general consensus was arrived at. Following this, the final guidelines were drafted by the writing group and approved by all contributors.
OBJECTIVES
These guidelines aim to provide practical clinical guidelines for pediatricians on the prevention, early diagnosis and management of neurodevelopmental disorders (NDDs) in the Indian settings. It also defines the roles of developmental pediatricians and development nurse counselor.
STATEMENT
There is a need for nationwide studies with representative sampling on epidemiology of babies with early NDD in the first 1000 days in India. Specific learning disability (SLD) has been documented as the most common NDD after 6 years in India, and special efforts should be made to establish the epidemiology of infants and toddlers at risk for SLD, where ever measures are available. Preconception counseling as part of focusing on first 1000 days; Promoting efforts to organize systematic training programs in Newborn Resuscitation Program (NRP); Lactation management; Developmental follow-up and Early stimulation for SNCU/ NICU graduates; Risk stratification of NICU graduates, Newborn Screening; Counseling parents; Screening for developmental delay by trained professionals using simple validated Indian screening tools at 4, 8, 12, 18 and 24 months; Holistic assessment of 10 NDDs at child developmental clinics (CDCs) / district early intervention centre (DEICs) by multidisciplinary team members; Confirmation of diagnosis by developmental pediatrician/developmental neurologist/child psychiatrist using clinical/diagnostic tools; Providing parent guided low intensity multimodal therapies before 3 years age as a center-based or home-based or community-based rehabilitation; Developmental pediatrician to seek guidance of pediatric neurologist, geneticist, child psychiatrist, physiatrist, and other specialists, when necessary; and Need to promote ongoing academic programs in clinical child development for capacity building of community based therapies, are the chief recommendations.
Topics: Child; Humans; Infant; Infant, Newborn; Academies and Institutes; Early Diagnosis; India; Neurodevelopmental Disorders
PubMed: 38183246
DOI: No ID Found -
Neurology and Therapy Feb 2024The objective of this study is to develop a clinical tool for the evaluation and follow-up of adolescent and adult patients with 5q spinal muscular atrophy (SMA) and to...
INTRODUCTION
The objective of this study is to develop a clinical tool for the evaluation and follow-up of adolescent and adult patients with 5q spinal muscular atrophy (SMA) and to design its validation.
METHODS
This prospective, non-interventional study will be carried out at five centres in Spain and will include patients aged 16 years or older with a confirmed diagnosis of 5q SMA (biallelic mutation of the survival motor neuron 1 [SMN1] gene). A panel of experts made up of neurologists, physiatrists and Spanish patients' association (FundAME), participated in the design of the clinical tool. Physicians will administer the tool at three time points (baseline, 12 months and 24 months). Additionally, data from other questionnaires and scales will be collected. Once recruitment is achieved, an interim statistical analysis will be performed to assess its psychometric properties by applying Rasch analysis and classical statistical tests.
RESULTS
The tool will consist of up to 53 items to assess functional status from a clinical perspective in seven key dimensions (bulbar, respiratory, axial, lower, upper, fatigability and other symptoms), which will be collected together with objective clinical measures (body mass index, forced vital capacity, pinch strength and 6-minute walk test).
CONCLUSIONS
The validation of this tool will facilitate the clinical evaluation of adult and adolescent patients with SMA and the quantification of their response to new treatments in both clinical practice and research.
PubMed: 38180726
DOI: 10.1007/s40120-023-00571-9 -
IEEE Transactions on Neural Systems and... 2024In the process of rehabilitation treatment for stroke patients, rehabilitation evaluation is a significant part in rehabilitation medicine. Researchers intellectualized...
In the process of rehabilitation treatment for stroke patients, rehabilitation evaluation is a significant part in rehabilitation medicine. Researchers intellectualized the evaluation of rehabilitation evaluation methods and proposed quantitative evaluation methods based on evaluation scales, without the clinical background of physiatrist. However, in clinical practice, the experience of physiatrist plays an important role in the rehabilitation evaluation of patients. Therefore, this paper designs a 5 degrees of freedom (DoFs) upper limb (UL) rehabilitation robot and proposes a rehabilitation evaluation model based on Belief Rule Base (BRB) which can add the expert knowledge of physiatrist to the rehabilitation evaluation. The motion data of stroke patients during active training are collected by the rehabilitation robot and signal collection system, and then the upper limb motor function of the patients is evaluated by the rehabilitation evaluation model. To verify the accuracy of the proposed method, Back Propagation Neural Network (BPNN) and Support Vector Machines (SVM) are used to evaluate. Comparative analysis shows that the BRB model has high accuracy and effectiveness among the three evaluation models. The results show that the rehabilitation evaluation model of stroke patients based on BRB could help physiatrists to evaluate the UL motor function of patients and master the rehabilitation status of stroke patients.
Topics: Humans; Stroke Rehabilitation; Stroke; Upper Extremity; Robotics; Paresis; Recovery of Function
PubMed: 38153832
DOI: 10.1109/TNSRE.2023.3346639 -
PM & R : the Journal of Injury,... Dec 2023Musculoskeletal (MSK) pathologies significantly affect the rehabilitation course for patients admitted to an inpatient rehabilitation facility (IRF). The impact of a...
BACKGROUND
Musculoskeletal (MSK) pathologies significantly affect the rehabilitation course for patients admitted to an inpatient rehabilitation facility (IRF). The impact of a specialized inpatient MSK consult service has not been previously evaluated.
OBJECTIVE
To assess the demographics, pathologies, and impact on pain scores of patients who were evaluated by a specialized MSK consult service.
DESIGN
Retrospective descriptive analysis of patients at an IRF who were evaluated by the MSK consult service.
SETTING
Academic IRF.
PARTICIPANTS
230 patients evaluated by the MSK consult service over 4.5 years.
INTERVENTIONS
MSK consult service composed of sports medicine fellowship-trained physiatrists who use history, physical examination, point-of-care ultrasound, and specialized MSK knowledge to assess and address MSK barriers to functional improvement.
MAIN OUTCOME MEASURES
Primary rehabilitation diagnosis, length of stay, discharge destination, reason for consult, MSK diagnosis, need for injection, change in Numerical Pain Rating Scale (NPRS) pain scores, change in Functional Independence Measures (FIM).
RESULTS
A total of 230 consults met inclusion criteria for analysis. The most common symptoms were shoulder pain (47%), knee pain (30%), and hip/groin pain (10.4%). The MSK consult service made 82 different musculoskeletal and neuromuscular diagnoses. The most common primary rehabilitation diagnosis was stroke (28.3%). Injections were performed in 44.3% of consults, with an average reduction in NPRS pain score of 2.3 (SD 1.9) and a statistically significant reduction in average NPRS pain scores in patients who underwent injections compared to those who did not (p < .001).
CONCLUSIONS
This study is the first to examine the use of an innovative inpatient MSK physiatry consult service in an IRF. This promising consult service can play a pivotal role in patient care by reducing functionally limiting MSK pain to allow for better toleration of therapies and to optimize functional gains.
PubMed: 38148275
DOI: 10.1002/pmrj.13118