Care for children and youth with cerebral palsy (GMFCS levels III to V).

Cerebral palsy (CP) is the most common physical disability in Canadian children. The comprehensive care of ambulatory children with CP functioning at Gross Motor Function Classification System (GMFCS) level I and II was covered in a previous practice point. This companion document focuses on the care of children with CP functioning at GMFCS levels III to V. Children functioning at GMFCS level III and IV mobilize using devices such as a walker, canes, or powered mobility, while those functioning at GMFCS level V require assisted mobility, such as a manual wheelchair. An overview of key concepts in early detection, rehabilitation services, and therapeutic options for children with CP at these levels is provided, along with practical resources to assist health surveillance for paediatricians caring for this population.

Les soins aux enfants et aux adolescents ayant la paralysie cérébrale (aux niveaux III à V du GMFCS).

La paralysie cérébrale (PC) est l'incapacité physique la plus fréquente chez les enfants canadiens. Les soins complets des enfants ayant la PC, qui sont capables de marcher et qui fonctionnent aux niveaux I et II du système de classification de la fonction motrice globale (GMFCS) sont déjà exposés dans un point de pratique. Le présent document complémentaire traite des soins aux enfants ayant la PC qui fonctionnent aux niveaux III à V du GMFCS. Ceux qui fonctionnent aux niveaux III et IV du GMFCS utilisent des dispositifs d'assistance comme des déambulateurs, des cannes ou des aides à la mobilité motorisées, tandis que ceux qui fonctionnent au niveau V du GMFCS ont besoin d'assistance à la mobilité comme un fauteuil roulant manuel. Le présent document contient un aperçu des principaux concepts relatifs à la détection précoce, aux services de réadaptation et aux possibilités de traitement pour les enfants présentant ces niveaux de PC, conjointement avec des ressources pratiques pour contribuer à la surveillance de la santé assurée par les pédiatres qui s'occupent de cette population.

Parental evaluation of a revised autism spectrum disorder diagnostic process for children under 36 months of age.

BACKGROUND: The Alberta Children's Hospital-Autism Spectrum Disorder Diagnostic Clinic (ACH-ASDC) was restructured due to long wait times and unsustainable clinic workflow. Major changes included the initiation of pre- and post-ASD parent education sessions and distinct ASD screening appointments before the ASD diagnostic appointment. METHODS: We conducted a parental program evaluation in summer 2018 of the ACH-ASDC. We used a cross-sectional survey to evaluate key outcomes including parental satisfaction, and the percentage of families obtaining access to government supports and early intervention programs. RESULTS: For the 101 eligible patients diagnosed with ASD under 36 months of age 70 (69.3%) parents agreed to participate. The mean diagnostic age of the children diagnosed with ASD was 30.6 months (SD=4.1 months). There were no statistically significant age differences between biological sexes. Ninety-three per cent of parents felt that ASD educational sessions were useful, and 92% of parents were satisfied to very satisfied with the overall ASD diagnostic process. Ninety per cent of parents had access to at least one of the key resources available for ASD early intervention in our province following diagnosis. Parents reported a positive impact on intervention provided to their child in the areas of communication, social interaction, and behaviour. CONCLUSION: Parents of children diagnosed with ASD expressed a high level of satisfaction with the restructured ACH-ASDC process. Implementing parent education sessions was well received and met parents' needs. Parents were able to access intervention services following diagnosis and reported positive impacts for their child. Re-envisioning program approaches to incorporate novel strategies to support families should be encouraged.

Les soins complets de l'enfant ayant la paralysie cérébrale et capable de marcher (GMFCS I et II) : une perspective canadienne.

La paralysie cérébrale (PC), qui est l'incapacité physique la plus fréquente au Canada, touche de deux à trois personnes sur 1 000. Au cours de leur carrière, les pédiatres verront et soigneront à coup sûr des enfants ayant la PC et leur famille. Le pédiatre général joue un rôle crucial dans les soins de l'enfant ayant la PC, qu'il s'agisse de poser le diagnostic ou d'assurer l'accès à une maison médicale (medical home), de garantir la coordination des soins ou de donner des conseils et des soins préventifs pour assurer sa santé et son bien-être. La fiche de santé et de bien-être en cas de PC qui accompagne le présent point de pratique peut aider à la fois le praticien et la famille de l'enfant à explorer des aspects essentiels de la santé, du fonctionnement, de la participation aux activités et du bien-être. Cette fiche peut être utilisée conjointement avec d'autres guides de promotion de la santé fondés sur des données probantes, comme le Relevé postnatal Rourke et le Relevé médical Greig, pour renseigner les cliniciens qui s'occupent d'enfants ayant la PC et capables de marcher (niveaux I et II du système de classification de la fonction motrice globale) sur des troubles et des domaines de santé particuliers.

Comprehensive care of the ambulatory child with cerebral palsy (GMFCS I and II): A Canadian perspective.

In Canada, cerebral palsy (CP) is the most common physical disability, affecting approximately 2 to 3 per 1,000 individuals. Paediatricians are sure to encounter and care for children with CP and their families. The role of the general paediatrician in caring for a child with CP is crucial, from diagnosis to providing a 'medical home', and from ensuring care coordination to delivering anticipatory guidance and preventive health and wellness care. The CP Health and Wellness Record that accompanies this practice point can assist both practitioners and children's families by exploring key areas of health, function, participation, and wellness. This record may be used alongside other evidence-based health promotion guides, such as the Rourke Baby Record and the Greig Health Record, to prompt clinicians caring for ambulatory children with CP (Gross Motor Function Classification System [GMFCS] levels I and II) on specific health issues and domains.

Ultrastructural analysis of submacular choriocapillaris and its transport systems in AMD and aged control eyes.

The choriocapillaris is the source of nutrients and oxygen for photoreceptors, which consume more oxygen per gram of tissue than any other cell in the body. The purpose of this study was to evaluate and compare the ultrastructure of the choriocapillaris and its transport systems in patients with and without age-related macular degeneration (AMD). Ultrastructural changes were also evaluated in subjects that were homozygous for polymorphisms in high risk CFH alleles (Pure 1) only or homozygous only for high risk ARMS2/HTRA1 (Pure 10) alleles. Tissue samples were obtained from the macular region of forty male (n = 24) and female (n = 16) donor eyes and prepared for ultrastructural studies with transmission electron microscopy (TEM). The average age of the aged donors was 74 ±â€¯7.2 (n = 30) and the young donors 31.7 ±â€¯11.25 (n = 10). There was no significant difference in average ages between the adult groups. TEM images of the capillaries in the choriocapillaris (CC) were taken at 4,000X and 25,000X and used to measure the area of endothelial cell somas, the number of fenestrations, and area of caveolae within the endothelial cells per length of Bruchs membrane (BrMb). The Student t-test and Wilcoxon sum rank test were used to determine significant differences. There was no significant difference between young subjects and aged controls in any of the morphological criteria assessed. There was a significant decrease in the number of fenestrations/mm of BrMb in atrophic areas of GA eyes (p = 0.007) when compared with aged control eyes. A significant increase was found in the caveolae area as a percent of the endothelial cell soma of capillaries from GA subjects as compared with the controls (p = 0.03). Loss of capillary segments in choriocapillaris was also evident, especially in areas of geographic atrophy and CNV. In eyes from patients with sequence variations, the capillary endothelial cells often appeared degenerative and exhibited atypical fenestrations and pericytes covering the blood vessels. Subjects that were homozygous for polymorphisms in high risk CFH alleles only had more fenestrations/mm of BrMb than subjects that were homozygous only for high risk ARMS2/HTRA1 alleles (p = 0.04), while the latter had greater caveolae area/endothelial cell area than the former (p = 0.007). This study demonstrated an attenuation of CC and a significant decline in the two major transport systems in CC endothelial cells in AMD. This may contribute to drusen deposition, nutrient transport, and vision loss in AMD subjects.

A new method for producing transgenic birds via direct in vivo transfection of primordial germ cells.

Traditional methods of avian transgenesis involve complex manipulations involving either retroviral infection of blastoderms or the ex vivo manipulation of primordial germ cells (PGCs) followed by injection of the cells back into a recipient embryo. Unlike in mammalian systems, avian embryonic PGCs undergo a migration through the vasculature on their path to the gonad where they become the sperm or ova producing cells. In a development which simplifies the procedure of creating transgenic chickens we have shown that PGCs are directly transfectable in vivo using commonly available transfection reagents. We used Lipofectamine 2000 complexed with Tol2 transposon and transposase plasmids to stably transform PGCs in vivo generating transgenic offspring that express a reporter gene carried in the transposon. The process has been shown to be highly effective and as robust as the other methods used to create germ-line transgenic chickens while substantially reducing time, infrastructure and reagents required. The method described here defines a simple direct approach for transgenic chicken production, allowing researchers without extensive PGC culturing facilities or skills with retroviruses to produce transgenic chickens for wide-ranging applications in research, biotechnology and agriculture.

Factors influencing medical students' choice of family medicine: effects of rural versus urban background.

OBJECTIVE: To identify factors that influence medical students' choice of family medicine versus another specialty and to analyze influential factors by urban versus rural background of students. DESIGN: Cross-sectional questionnaire survey conducted in 2010. SETTING: University of Alberta in Edmonton. PARTICIPANTS: A total of 118 first-, 120 second-, and 107 third-year medical students. MAIN OUTCOME MEASURES: Twenty-two factors influencing preferred career choice, type of community lived in (rural vs. urban), and student age and sex. RESULTS: Overall, 283 (82.0%) students responded to the survey. Those who preferred family medicine rather than another specialty as a career option were older (≥ 25 years) (69.6% vs. 40.9%, P < .001), female (69.6% vs. 39.3%, P < .001), and had previously lived in rural locations (< 25,000 population) (46.8% vs. 23.9%, P < .001). Four factors were significantly associated with students preferring family medicine compared with any other specialty: emphasis on continuity of care (87.3 vs. 45.3%, P < .001); length of residency (73.4% vs. 25.9%, P < .001); influence of family, friends, or community (67.1% vs. 50.2%, P = .011); and preference for working in a rural community (41.8% vs. 10.9%, P < .001). For students with urban backgrounds, the preference for family medicine was more strongly influenced by the opportunity to deal with a variety of medical problems; current debt load; and family, friends, or community than for those with rural backgrounds. Practice location preferences also differed between students from rural and urban backgrounds. CONCLUSION: Medical students who prefer family medicine as a career choice appear to be influenced by a different set of factors than those who prefer other specialties. Being female; being older; having previously lived in a rural location; placing importance on continuity of care; desire for a shorter residency; and influence of family, friends, or community are associated with medical students preferring family medicine. Some differences in factors influencing career choice exist between medical students from rural versus urban backgrounds. To increase the supply of family physicians, medical schools might consider introducing elements into the admissions process and the medical curriculum that encourage family medicine as a career choice.

Association of Mx1 Asn631 variant alleles with reductions in morbidity, early mortality, viral shedding, and cytokine responses in chickens infected with a highly pathogenic avian influenza virus.

Myxovirus-resistance (Mx) proteins are produced by host cells in response to type I interferons, and some members of the Mx gene family in mammals have been shown to limit replication of influenza and other viruses. According to an early report, chicken Mx1 variants encoding Asn at position 631 have antiviral activity, whereas variants with Ser at 631 lack activity in experiments evaluating Mx1 complementary DNA (cDNA) expressed ectopically in a cell line. We evaluated whether the Mx1 631 dimorphism influenced pathogenesis of highly pathogenic avian influenza virus (HPAIV) infection in chickens of two commercial broiler lines, each segregating for Asn631 and Ser631 variants. Following intranasal infection with HPAIV strain A/Chicken/Queretaro/14588-19/1995 H5N2, chickens homozygous for Asn631 allele were significantly more resistant to disease based on early mortality, morbidity, or virus shedding than Ser631 homozygotes. Higher amounts of splenic cytokine transcripts were observed in the Ser631 birds after infection, consistent with higher viral loads seen in this group and perhaps contributing to their higher morbidity. Nucleotide sequence determination of Mx1 cDNAs demonstrated that the Asn631 variants in the two chicken lines differed at several amino acid positions outside 631. In vitro experiments with a different influenza strain (low pathogenicity) failed to demonstrate an effect of Mx1 Asn631 on viral replication suggesting that in vivo responses may differ markedly from in vitro, or that choice of virus strain may be critical in demonstrating effects of chicken Mx1. Overall, these studies provide the first evidence that Mx1 has antiviral effects in chickens infected with influenza virus.

The Clinical Dilemma of Autism Spectrum Disorder Diagnosis in a Child with 9p Deletion.

We reported on a 3-year-old girl child patient with the presence of trigonocephaly, broad nasal bridge, flattened occiput, and midface hypoplasia. Formal assessment of her development profile demonstrated expressive and receptive language delays, fine and gross motor delays, and no imaginative or symbolic representative play. Investigation of the etiology of her developmental delays revealed a genetic diagnosis of a 9p24 deletion by chromosomal microarray analysis. The possibility of an additional co-occurring disorder of autism spectrum disorder (ASD) was also raised by a referring clinician. This case report highlighted the clinical dilemma of diagnosing ASD in those with existing genetic syndromes.

Hereditary spastic paraplegia initially diagnosed as cerebral palsy.

INTRODUCTION: Spastic diplegia presenting in infancy is common to both cerebral palsy (CP) and hereditary spastic paraplegia (HSP). We report the clinical and genetic features of a cohort of Alberta patients with a diagnosis of HSP, who were initially diagnosed with CP. METHODS: Fourteen patients with an initial diagnosis of CP were identified from an Alberta registry of HSP patients via chart review. Whole exome sequencing (WES) was performed to identify genetic causes. RESULTS: From 90 families in the database, individuals in 29 families had a pediatric presentation of spasticity, with 20 presenting under 3 years of age. Individuals from 14 families had received an initial diagnosis of CP and correct diagnosis was made after neurogenetic assessment due to symptom progression. All had early onset (<3 years) of symptoms. WES identified pathogenic or likely pathogenic mutations in nine cases involving six genes: ATL1, PLP1, PNPLA6, SACS, SPAST, and SYNE1. In five families, WES did not reveal a genetic etiology but progression of symptoms and positive family history suggests HSP is the most likely diagnosis. CONCLUSION: In our cohort, 70% of HSP children presenting with spasticity under 3 years had been misdiagnosed with CP. In a young child presenting with spastic diplegia without clear history of prematurity, intrauterine growth restriction, infection or vascular insult, it is important to consider HSP. Accurate diagnosis has implications for prognosis, management, and recurrence risk.

Experience with the Rapid Interactive Test for Autism in Toddlers in an Autism Spectrum Disorder Diagnostic Clinic.

OBJECTIVE: To examine the psychometric properties of the Rapid Interactive Screening Test for Autism in Toddlers (RITA-T) in an autism spectrum disorder (ASD) clinic for children aged 18 to 36 months. METHODS: The RITA-T (level 2 screening instrument) was integrated into an ASD screening and diagnostic process for evaluating children aged 18 to 36 months who were referred to a pediatric tertiary care center. Scoring of the RITA-T to differentiate ASD from non-ASD developmental concerns was evaluated. Screening instrument measurements included sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), positive likelihood ratio (LR+), and negative likelihood ratio (LR-). RESULTS: From a total of 239 participants aged 18 to 36 months (males = 78% and females = 22%), 201 (84%) were diagnosed with ASD (4:1 male-to-female ratio). An ASD diagnosis was significantly associated with RITA-T scores, with ASD patients scoring higher than non-ASD patients [F (1,235) = 170, mean difference: males 9.21, mean difference: females 12.4, p < 0.001]. The RITA-T score was not statistically correlated with age or sex. The optimal cutoff score of ≥14 was determined from a receiver operator curve analysis (area under the curve = 0.953). In the study group, with a cutoff score of ≥14, the RITA-T showed a sensitivity of 0.97, specificity of 0.71, PPV of 0.95, NPV of 0.79, LR+ of 3.33, and LR- of 0.05. CONCLUSION: The RITA-T, as a level 2 screening instrument for ASD, exhibits discriminative psychometric properties similar to previously published results. When integrated into an ASD screening and diagnostic process for families for whom concerns about ASD have been raised with their children aged 18 to 36 months, the RITA-T helps to predict a best-estimate clinical diagnosis of ASD.

Aphonogelia After Recovery From Severe Traumatic Brain Injury: A Case Report.

During rehabilitation from a severe traumatic brain injury, a 16-year-old girl became aware that she had lost the ability to laugh out loud. This rare phenomenon previously has been described as "aphonogelia." A discussion of therapeutic avenues that were explored with this patient is presented in the first case, to our knowledge, of aphonogelia after a traumatic brain injury. LEVEL OF EVIDENCE: V.

Ocular Histopathology and Immunohistochemical Analysis in the Oldest Known Individual with Autosomal Dominant Vitreoretinochoroidopathy.

PURPOSE: To assess the immunohistochemical and histopathological changes in a subject with Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC). DESIGN: Case study. PARTICIPANT: Ninety two year-old Caucasian male with ADVIRC. METHODS: The subject was documented clinically for 54 Years. The retina/choroid complex of the right eye was evaluated with cryosections stained with hematoxylin and eosin or periodic acid schiff reagent. Cryosections were also evaluated with immunofluorescence or alkaline phosphatase immunohistochemistry (IHC) using primary antibodies against bestrophin1, GFAP, PEDF, RPE65, TGFß, VEGF, and vimentin. The left retina and choroid were evaluated as flat mounts using immunofluorescence. UEA lectin was used to stain viable vasculature. MAIN OUTCOME MEASURES: The immunohistochemical and histopathological changes in retina and choroid from a subject with ADVIRC. RESULTS: The subject had a heterozygous c.248G>A variant in exon 4 of the BEST1 gene. There was widespread chorioretinal degeneration and atrophy except for an island of spared RPE monolayer in the perimacula/macula OU. In this region, some photoreceptors were present, choriocapillaris was spared, and retinal pigment epithelial cells were in their normal disposition. There was a Muller cell periretinal membrane throughout much of the fundus. Bestrophin-1 was not detected or only minimally present by IHC in the ADVIRC RPE, even in the spared RPE area. Beyond the island of retained RPE monolayer on Bruch's membrane (BrMb), there was migration of RPE into the neuro-retina, often ensheathing blood vessels and producing excessive matrix within their perivascular aggregations. CONCLUSIONS: The primary defect in ADVIRC is in RPE, the only cells in the eye that express the BEST1 gene. The dysfunctional RPE cells may go through epithelial/mesenchymal transition as they migrate from BrMb to form papillary aggregations in the neuro-retina, often ensheathing blood vessels. This may be the reason for retinal blood vessel nonperfusion. Migration of RPE from BrMb was also associated with attenuation of the choriocapillaris.

Desensitizing a pilot with a phobic response to required helicopter underwater escape training.

INTRODUCTION: A systematic desensitization program designed to help aircrew who have a phobic anxiety of the Helicopter Underwater Escape Training (HUET) has been developed. CASE PRESENTATION: A student pilot presented with a severe phobic anxiety of the HUET course--a result of a being trapped underwater on a marine survival training course. A treatment team was assembled and concluded his phobia could be treated by a systematic desensitization method. An exposure matrix of graded difficulty of in/underwater escapes was performed over 2 d. The student reported that his confidence increased and anxiety reduced as he became accustomed to being strapped into a seat in the escape trainer while wearing increasingly difficult levels of equipment which increased the difficulty of escape, such as taking away nasal protection and goggles. At the end of Day 1, he was able to jettison the exit door/hatch while inverted underwater with a facemask and dressed in a simple coverall. At the end of Day 2, without nasal protection, inverted underwater, wearing full military equipment, he was able to cross the cabin, jettison the exit door, and successfully escape. DISCUSSION: A systematic desensitization treatment program can be used to successfully treat aircrew for phobia of the helicopter underwater escape trainer.

The emotional intelligence of pediatric residents - a descriptive cross-sectional study.

BACKGROUND: Emotional Intelligence (EI) is a type of social intelligence. Excellent scores are achieved by displaying high levels of empathy in interpersonal relationships, strong skills in managing stressful situations as well as other personal competencies. Many of the social competencies that EI describes may have a direct impact on patient care. The objective of this study was to describe EI of pediatric residents and to identify if there are EI skills that should be selected for targeted intervention. METHODS: This was a cross-sectional study administering the EQ-i 2.0© psychometric instrument to pediatric residents at the University of Alberta. RESULTS: Thirty-five residents completed the EQ-i 2.0© (100% response rate). Their overall EI score was not significantly different than a normative group of college-educated professionals. Residents had relative strengths in the subcategories of Emotional expression, Interpersonal Relationships, Empathy, and Impulse Control (all p<0.05). Areas of relative weakness were in the subcategories of Stress Tolerance, Assertiveness, Independence, and Problem Solving (all p<0.05). CONCLUSION: The EI of pediatric residents is consistent with that of other professionals. Educational interventions may be useful in the areas of weakness to enhance the physician-patient relationship.

Chronic ingestion of (3R,3'R,6'R)-lutein and (3R,3'R)-zeaxanthin in the female rhesus macaque.

PURPOSE: To investigate how supplementation of the monkey's diet with high doses of lutein (L), zeaxanthin (Z), or a combination of the two affects the plasma levels and ocular tissue deposition of these carotenoids and their metabolites over time and to determine whether these high doses can cause ocular toxicity. METHODS: Eighteen female rhesus monkeys were divided into groups of control (n = 3 control), L-treated (n = 5, 9.34 mg lutein/kg and 0.66 mg zeaxanthin/kg), Z-treated (n = 5, 10 mg zeaxanthin/kg), and L/Z-treated (n = 5, lutein and zeaxanthin, each 0.5 mg/kg). After 12 months of daily supplementation, one control animal, two L-treated animals, two Z-treated animals, and all the L/Z-treated animals were killed. The rest of the monkeys were killed after an additional six months without supplementation. Plasma and ocular tissue carotenoid analyses, fundus photography, and retina histopathology were performed on the animals. RESULTS: Supplementation of monkeys with L and/or Z increased the mean plasma and ocular tissue concentrations of these carotenoids and their metabolites. The mean levels of L and Z in the retinas of the L- and Z-treated animals after 1 year increased significantly over baseline. High dose supplementation of monkeys with L or Z did not cause ocular toxicity and had no effect on biomarkers associated with kidney toxicity. CONCLUSIONS: The mean levels of L and Z in plasma and ocular tissues of the rhesus monkeys increase with supplementation and in most cases correlate with the levels of their metabolites. Supplementation of monkeys with L or Z at high doses, or their combination does not cause ocular toxicity.

Recurrent Diplopia in a Pediatric Patient with Bickerstaff Brainstem Encephalitis.

Introduction. Acute complete external ophthalmoplegia is a rare finding in clinical practice that is associated with diseases affecting the neuromuscular junction, the oculomotor nerves, or the brainstem. Ophthalmoplegia has been reported with acute ataxia in Miller Fisher syndrome (MFS) and Bickerstaff brainstem encephalitis (BBE). Up to 95% of these cases are associated with anti-GQ1b antibodies. Only a small number of cases of anti-GQ1b negative MFS have been documented in pediatric patients. This is the first case reporting a recurrence of ocular symptoms in an anti-GQ1b antibody negative patient with BBE. Case Presentation. An 8-year-old Caucasian boy presented with complete external ophthalmoplegia without ptosis, cerebellar ataxia, and a disturbance of consciousness. He had recently recovered from a confirmed Campylobacter jejuni infection. On subsequent laboratory testing he was anti-GQ1b antibody negative. He had a recurrence of diplopia at four-week follow-up. Conclusions. This patient's recurrence of diplopia was treated with a five-week course of oral corticosteroids which did not worsen his condition, and this may be a therapeutic option for similar patients. We will discuss the symptoms and treatment of reported pediatric cases of anti-GQ1b antibody negative cases of MFS and the variation between cases representing a spectrum of illness.