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The efficacy of the neurodevelopmental therapy treatment approach in 4-7 year old children with cerebral palsyFitzpatrick, Louise. 12 1900 (has links)
Thesis (MSc)--Stellenbosch University, 2001. / ENGLISH ABSTRACT: Although the neurodevelopmental therapy (NDT) treatment approach is used extensively in the management of
children with cerebral palsy, there is currently very little documented research to support its efficacy. The purpose of
this study was to evaluate the efficacy of NDT in terms of its effect on motor function in a group of 10 cerebral palsy
children. A multiple simple single-subject design was used in which the children each acted as their own controls. A
5 week baseline period, during which no intervention was received by the children, was followed by a 5 week
intervention phase during which the children received twice weekly NDT treatment. The children were assessed at
the beginning and end of each phase using the Gross Motor Function Measure (GMFM), and an assessment tool,
which allowed the establishment of individualised outcome measures, called TELER. The group of children
demonstrated no statistically significant gains in motor function on either of the outcome measures during the
baseline phase of the study. However during the intervention phase the overall improvements demonstrated by the
group on both the GMFM and TELER were statistically significant. Nine out of the ten children achieved greater
improvements in their goal total GMFM scores during the intervention phase than during the baseline phase.
Similarly all of the children achieved a greater number of clinically significant improvements on the TELER
outcome measures. NDT was beneficial and useful in promoting motor function in this group of cerebral palsy
children. / AFRIKAANSE OPSOMMING: Alhoewel die Neuro-ontwikkelingsterapie (NOT) behandelingsbenadering wydeverspreid gebraik word in die
behandeling van kinders met serebrale verlamming, is daar huidiglik baie min gedokumenteerde navorsing om die
effektiwiteit daarvan te staaf. Die doel van hierdie studie was om die effektitiwiteit van NOT te evalueer met
betrekking tot die impak daarvan op die motoriese funksie van ‘n groep van 10 kinders met serebrale verlamming. ‘n
Veelvuldige eenvoudige enkeling -subjek raamwerk is gebruik waarvolgens die kinders elk as hul eie kontrolegoep
ageer het. ‘n 5-weke basislyn fase, waartydens die kinders aan geen intervensies onderwerp is nie, is gevolg deur ‘n
5-weke intervensie fase waartydens die kinders twee keer per week NOT behandeling ontvang het. Die kinders is
geevalueer aan die begin en einde van elke fase met die Oorhoofse Motoriese Funksie Maatstaf (OMFM)/Gross
Motor Function Measure (GMFM), asook ‘n evalueringsmaatstaf genaamd TELER, wat die bepaling van
geindivualiseerde resultate moontlik gemaak het. Die groep kinders het geen statistics bewese vordering in motoriese
fiinksies getoon volgens beide die evalueringsmaatstawwe tydens die basislyn fase van die studie nie. Daarteenoor
het die groep tydens die intervensie fase oorhoofs gesproke statistics bewese vordering getoon met betrekking tot
beide die OMFM en die TELER. Nege uit die 10 kinders het groter vordering getoon met hul totale OMFM resultate
tydens die intervensie fase as gedurende die basislyn fase. A1 die kinders het tegelykertyd ‘n groter hoeveelheid
substantiewe kliniese verbeterings getoon met betrekking tot hul TELER uitkomste. NOT was voordelig en nuttig in
terme van die verbetering van motoriese funksie in die groep van serebraal verlamde kinders.
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A sensory-motor integration programme for boys with autism spectrum disorder : two case studiesHagemann, Carla-Rae 12 1900 (has links)
Thesis (MScSportSc)--Stellenbosch University, 2014. / ENGLISH ABSTRACT: Autism Spectrum Disorder (ASD) has been described as a neuro-developmental disorder
influencing the social interaction and communication skills of individuals. Those with ASD
have been observed to experience sensory input challenges, which could result in motor
delays. Descriptive research was conducted with two case studies, who were boys aged 6-
and 8-years, diagnosed with ASD. The purpose of the study was to design and implement a
Sensory-Motor Integration (SMI) programme for each boy and to assess the effect it had on
the sensory motor skills of the boys over time.
At the start of the intervention, the boys were assessed with three neuro-developmental
and diagnostic evaluations (Social Communication Questionnaire, Autism Diagnostic
Interview Revised and Autism Diagnostic Observation Schedule-2nd Edition) conducted by a
psychiatrist to re-affirm their previous ASD diagnoses. The two boys (Subject A and Subject
G) participated in individualised sessions of 30 minutes each, twice a week for seven
months. The SMI programme focused on vestibular and somato-sensory (proprioceptor)
variables. The Quick Neurological Screening Test-3 (QNST III) and the Sensory Input Systems
Screening Test (SISST) were used to evaluate the latter at baseline. These were repeated
regularly, every 4 to 5 weeks, over the 7-month period and included a retention test of 5
weeks. Based on the results from the subtests of the motor skill tests, a self-designed SMI
programme was integrated into the planning of the intervention programme for each boy
according to their sensory-motor needs. Subject A showed improvement in the following vestibular subtests in the QNST-III: Stand on
one leg (67%) and Tandem walk (83%) and retaining his standard from the Post-test to the
Retention test. For muscle tone ability and proprioception, the Arm and leg extension
subtest also demonstrated improvement (67%) from the Pre-to the Post-test. The results of
the subtest were not retained over the retention period and increased only slightly being
33% from the baseline score.
The proprioceptive function of Subject A showed great improvement in the following QNSTIII
subtests: Finger to nose (67%), Rapidly reversing repetitive hand movements (88%) and
Left and right discrimination (67%). The results of vestibular-related subtests for Subject G
showed improvement in the following: Stand on one leg (33%) and the Arm and leg extension task (33%). Some of the scores of Subject G started in the functional category of
“severe discrepancy”; however there was improvement in the following proprioceptionrelated
subtests: Finger to nose (43%), Thumb and finger circles (20%), and Reversing
repetitive hand movements (86%). Although Subject G showed gradual improvement over
time, his two sensory systems struggled to integrate with the more complex tasks. The
outcome of the individualised SMI programmes showed that the sensory-motor skills
improved by enhancing the stimulation of their vestibular and somato-sensory
(proprioception) function.
Regarding the SISST, Subject A progressed from a ‘fail’ to ‘pass’, in the following test items:
the Tonic Labyrinthine Supine (TLS), Tonic Labyrinthine Prone (TLP), Positive Support Reflex
(PSR) and the Ocular Alignment test items. Results from the Vestibular test for both Subject
A and Subject G appeared to be ‘hypo-vestibular’ (under-stimulated) according to the Post-
Rotary Nystagmus test (PRN) score at baseline. These scores were inconsistent during the
intervention. The only test item to show positive improvement for Subject G was the
Equilibrium Reactions. Lastly, both Subject A and Subject G remained in the ‘fail’ category
for Kinaesthesis, which may indicate their ongoing poor proprioception and spatial
orientation.
There is a need for further research in the area of sensory-motor individualised programmes
for children with ASD. Suggestions for future research interventions are to conduct the
individualised programmes either over a longer period of time and more frequently at three
times a week. / AFRIKAANSE OPSOMMING: Outisme Spektrum Versteuring (OSV) word beskryf as 'n neuro-ontwikkelingsversteuring
wat die sosiale interaksie en kommunikasie van individue beïnvloed. Daar is waargeneem
dat diegene met OSV, uitdagings met betrekking tot sensoriese insette ervaar, wat kan lei
tot motoriese agterstande. Beskrywende navorsing is toegepas met twee gevalle-studies.
Die ouderdom van die twee seuns wat met outisme gediagnoseer was, was 6- en 8-jaar oud.
Die doel van die studie was om ʼn Sensories-Motoriese Integrasie (SMI) program te
ontwikkel en te implementeer as intervensie wat op elk van die seuns spesifiek toegespits is.
Die intervensie-program het voorsiening gemaak om aan die uitvoering van bepaalde
motoriese vaardighede aandag te skenk en om die uitwerking daarvan oor die 7-maande
tydperk te assesseer. Die twee seuns (Geval A en Geval G) het individuele sessies van 30
minute elk twee keer per week bygewoon. Die SMI program het op die vestibulêre en
somato-sensoriese (proprioseptor) sisteme gefokus om hul vermoë en vordering waar te
neem.
Aan die begin van die studie is drie neuro-ontwikkelings- en diagnostiese meetinstrumente
(SCQ, ADIR-R en ADOS) deur 'n psigiater gelei om die vorige OSV diagnose van die seuns te
bevestig. Die “Quick Neurological Screening Test” (QNST III) en die “Sensory Input Systems
Screening Test“ (SISST) is benut om hul aanvangsvermoë as basislyn te bepaal. Hierdie
toetse was gereeld herhaal, elke 4 tot 5 weke oor ʼn tydperk van 7 maande en het ʼn retensie
toets van 5 weke ingesluit. Op grond van die resultate van die sub-toetse van die vermelde
motoriese vaardigheidstoetse, is die self-ontwerpte SMI intervensie-program vir elke seun,
volgens sy persoonlike sensoriese-motoriese behoeftes, beplan. Geval A het verbetering getoon in die volgende QNST-III sub-toets: Staan op een been (67%)
en Tandemloop (83%), en handhaaf sy standaard vanaf die na-toets tot en met die retensie
toets. Vir spiertonus en propriosepsie, het die Arm- en been-ekstensie sub-toets ook ʼn
verbetering (67%) van die voor-toets tot die na-toets getoon. Die resultaat van hierdie subtoets
is nie oor die hele tydperk gehandhaaf nie, en het net effens verhoog (33%) van die
basislyn telling. Die proprioseptiewe funksie van Geval A het 'n groot verbetering in die
volgende QNST-III sub-toetse getoon: Vinger na neus (67%), Vinnige omkeer, herhalende
hand bewegings (88%) en Links en regs diskriminasie (67%). Geval G se resultate vir die vestibulêre-verwante sub-toetse het verbetering in die volgende getoon: Een been staan
(33%) en Arm- en Been-ekstensie (33%).
Sommige van die resultate van Geval G het op 'n ernstige diskripansie begin, maar daar was
verbetering in die volgende proprioseptiewe verwante sub-toetse: Vinger na neus (43%),
Duim en vinger sirkels (20%) en Vinnige omkeer, herhalende hand bewegings (86%). Ten
spyte daarvan dat Geval G ʼn geleidelike verbetering oor tyd getoon het, het sy twee
sensoriese stelsels gesukkel om met die meer komplekse take met mekaar te integreer. Die
uitkoms van die geïndividualiseerde SMI programme het getoon dat die sensoriesemotoriese
vaardighede by beide seuns verbeter as gevolg van die verbeterde stimulering
van hul vestibulêre en somato-sensoriese (proprioseptiewe) funksie.
Die SSIST resultate toon dat Geval A van ‘druip’ na ‘slaag’ in die volgende toetsitems
gevorder het: Tonic Labyrinthine Supine (TLS), Tonic Labyrinthine Prone (TLP), Positive
Support Reflex (PSR) en die Ocular Alignment toetsitems. Resultate van die vestibulêre
toets, blyk dit dat sowel Geval A as Geval G ‘hipo-vestibulêr’ (onder-gestimuleer) was
volgens die “Post-Rotary Nystagmus toets” (PRN) meting wat by die basislyn toetsing behaal
is. Hierdie tellings was veranderlik tydens die intervensie. Die enigste toetsitem wat ʼn
positiewe verbetering by Geval G getoon het, was die Ekwilibriumsreaksie. Laastens, beide
Geval A en Geval G het in die ‘druip’ kategorie vir Kinestese gebly wat daarop dui dat hul
swak propriosepsie en ruimtelike oriëntasie steeds teenwoordig was.
Daar is 'n behoefte aan verdere navorsing op die gebied van sensoriese-motoriese
individuele programme vir kinders met OSV. Toekomstige navorsing wat individuele
programme benut, moet oorweeg om die intervensie oor ʼn langer tydperk (bv. een jaar) te
laat geskied met meer sessies per week (bv. drie sessies).
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Reading the Disease Leaves: Signals, signatures and synchrony in neurodevelopmental disordersRessler, Andrew January 2021 (has links)
In vitro models are often used both to characterize and test therapeutics for neurodevelopmental disorders (‘NDDs’). While in vitro models have extraordinary potential to develop therapies for patients, they have historically been confounded by absence of robust phenotypes and/or in vitro phenotypes that fail to translate from laboratory bench to bedside. Within this thesis work, we attempt to address three areas in which in vitro models may be improved – gene selection, model validation and identification of disease-relevant functional assays suited for therapeutic testing. Publicly available databases aggregating identified and annotated disease-causing variants for Mendelian diseases have rapidly expanded over the past two decades. Elucidating mechanisms of disease and developing therapies using in vivo model systems often is both time and cost intensive. Thus, determining which subsets of genes are more likely to generate addressable signals in a dish may lead to more effective drug development. In chapter 1, we identify a set of genes ideally suited for therapeutic inhibition. Specifically, we leverage the aforementioned large genetic databases to identify a set of genes likely to act through a gain-of-function mechanism that are both tolerant to loss-of-function mutations and in the druggable genome.
In chapter 2, we aim to characterize the degree of conservation of transcriptomic dysregulation between a human in vitro cortical organoid (‘hCOs’) model, and two mouse models of a severe neurodevelopmental disorder resulting from HNRNPU deficiency. Human model systems may improve upon animal models when human pathogenesis and patient phenotypes are divergent from animal models due to species-specific etiology. However, human model systems often lack the heterogeneity and cell-type specificity and maturity seen in primary fetal samples. Importantly, some mouse models of HNRNPU deficiency have muted phenotypes compared with human patients. We hypothesized that while there are distinctions between humans and mice with HNRNPU deficiency, there will be overlap in transcriptomic dysregulation between human and mouse models. In fact, we find 45-day-old HNRNPU+/- hCOs have consistent transcriptomic dysregulation to embryonic mouse models, but not to perinatal mice. Our findings suggest hCOs are a viable model for characterizing HNRNPU deficiency; however, such models may only be appropriate for elucidating a transcriptomic disease state at a specific developmental time period.
Functional assays for neurodevelopmental disorders can aid in understanding whether transcriptomic dysregulation is relevant to patient symptoms, as genomic findings may not always correlate to disease-relevant phenotypes. Further, relevant functional phenotypes can then be utilized for testing potential therapeutics. Importantly, seizures are commonly present in a significant subset of neurodevelopmental disorders and seizure phenotypes have been described as driven by aberrant synchrony in neuronal networks. Using a multielectrode array platform, investigators can use a variety of computational methods to quantify aspects of synchrony in vitro. In chapter 3a, we introduce topological approaches capable of identifying novel synchrony phenotypes in primary neuronal networks from mouse models of neurodevelopmental disorders. Certain mouse models will be confounded by species-specific pathogenesis and/or vastly different developmental timelines and fail to generalize to human patients, motivating the need for functionally active and physiologically relevant human in vitro models. In chapter 3b, we attempt to generate human networks with balanced levels of excitation and inhibition and find confounding lack of functional maturation of inhibitory neuronal subtypes in 90-day-old stem cell-derived neuronal networks. Future work generating in vitro human neuronal networks with functionally mature inhibitory neurons would complement the findings in chapters 1 and 2 and allow for more efficient therapeutic development strategies that may lead to improved patient outcomes.
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A qualitative study to understand the experiences and coping processes of primary caregivers of children with Autism Spectrum Disorder.Fewster, Deborah Leigh. 30 June 2014 (has links)
Aim: The aim of the study is to gain deeper understanding into the lived experiences of
parents at a stimulation centre in KwaZulu-Natal, South Africa, and the coping
strategies they employ in caring for their children with Autism Spectrum Disorder (ASD).
Significance: As literature has focused on international studies this study has provided
deeper understanding of the lived experiences and coping strategies of parents of
children with ASD in a local setting within South Africa. Experiences across the age
spectrum of children, gendered differences in coping and the meaning behind having a
child with ASD provides a unique outlook on ASD as opposed to literature that focuses
on other areas.
Methods: Eleven parents participated in semi-structured interviews. These interviews
were triad, dyad or one-on-one interviews. Interviews were audiotaped and transcribed
verbatim once completed. Thematic analysis was used to analyze the data and extract
themes.
Findings: The lived experiences of parents included stressful and devastating
experiences as well as positive meaning. Daily challenges were navigated by positive
and negative coping strategies with gendered differences in coping being evident.
Parents expressed mixed feelings about the benefits of support groups and provided a
road map of advice for other parents of children with ASD.
Conclusion: Parents of children with ASD undergo enormous stress and emotional
upheaval in caring for their children. However in addition to negative experiences, they
gain some positive meaning and see it as character building. Their experiences provide
useful information for other parents undergoing the same journey. / Thesis (M.O.T.)-University of KwaZulu-Natal, Durban, 2013.
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