Juvenile neuronal ceroid lipofuscinosis and education

Tetzchner, Stephen von; Fosse, Per; Elmerskog, Bengt

doi:10.1016/j.bbadis.2013.02.017

Cited by 11 publications

(14 citation statements)

References 52 publications

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“…In some cases, speech disappears completely, but poor intelligibility due to articulatory dysfunction is a more common problem than a total lack of speech. 48 Other changes that have been observed include increased dysfluency (stuttering or cluttering) and a greater prevalence of omissions of inflections at the end of words, splitting of words, word-finding problems, incorrect or idiosyncratic use of words without showing awareness of it, odd word constructions, syntactic errors, and problems initiating conversations. 48 For some patients with JNCL, word-finding problems may be most apparent, while dysfluency of speech is the greatest problem for others.…”

Section: Clinical Symptomsmentioning

confidence: 99%

“… 48 Other changes that have been observed include increased dysfluency (stuttering or cluttering) and a greater prevalence of omissions of inflections at the end of words, splitting of words, word-finding problems, incorrect or idiosyncratic use of words without showing awareness of it, odd word constructions, syntactic errors, and problems initiating conversations. 48 For some patients with JNCL, word-finding problems may be most apparent, while dysfluency of speech is the greatest problem for others. As the disease progresses, both word comprehension and speech production become increasingly dependent on being in a situation that is familiar and does not contain too many disturbing elements.…”

Section: Clinical Symptomsmentioning

confidence: 99%

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Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights

Østergaard

2016

DNND

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The present review is focused on juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) due to a mutation in CLN3. Functional vision impairment occurring around 5–6 years of age is the first symptom in more than 80% of patients. Approximately 2 years later (though sometimes simultaneously), obvious signs of cognitive impairment appear. Behavior problems can occur in advance, especially in boys. These include anxious and depressed mood, aggressive behavior, and hallucinations, and even psychotic symptoms. Following the teens, severe dementia is present, including loss of memory, attention, and general reasoning abilities, as well as loss of independent adaptive skills such as mobility, feeding, and communicating. Sleep abnormalities, such as settling problems, nocturnal awakenings, and nightmares, are reported in more than half of patients. The vast majority, if not all, patients develop seizures, starting at approximately 10 years of age. Generalized tonic–clonic seizure occurs as the only type of seizure in approximately half of patients, and in combination with partial seizures in a third of patients. There seems to be no difference in seizure severity according to sex or genotype, and there is great variation in seizure activity among patients. Soon after diagnosis, patients begin to have slight ataxic symptoms, and at adolescence extrapyramidal symptoms (rigidity, bradykinesia, slow steps with flexion in hips and knees) occur with increasing frequency. Chewing and swallowing difficulties emerge as well, and food intake is hampered in the late teens. Disabling periodically involuntary movements may occur as well. A progressive cardiac involvement with repolarization disturbances, ventricular hypertrophy, and sinus-node dysfunction, ultimately leading to severe bradycardia and/or other conduction abnormalities, starts in the mid-teens. Patients are usually bedridden at 20 years of age, and death usually occurs in the third decade of life.

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Section: Clinical Symptomsmentioning

confidence: 99%

Section: Clinical Symptomsmentioning

confidence: 99%

Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights

Østergaard

2016

DNND

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“…These conditions are characterized by speech and language problems, with a decline in verbal abilities over time [Lamminranta et al, 2001;von Tetzchner et al, 2013].…”

Section: Sz and (The Evolution Of) Human Languagementioning

confidence: 99%

Schizophrenia and Human Self-Domestication: An Evolutionary Linguistics Approach

et al. 2017

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Schizophrenia (SZ) is a pervasive neurodevelopmental disorder that entails social and cognitive deficits, including marked language problems. Its complex multifactorial etiopathogenesis, including genetic and environmental factors, is still widely uncertain. SZ incidence has always been high and quite stable in human populations, across time and regardless of cultural implications, for unclear reasons. It has been hypothesized that SZ pathophysiology may involve the biological components that changed during the recent human evolutionary history, and led to our distinctive mode of cognition, which includes language skills. In this paper we explore this hypothesis, focusing on the self-domestication of the human species. This has been claimed to account for many human-specific distinctive traits, including aspects of our behavior and cognition, and to favor the emergence of complex languages through cultural evolution. The “domestication syndrome” in mammals comprises the constellation of traits exhibited by domesticated strains, seemingly resulting from the hypofunction of the neural crest. It is our intention to show that people with SZ exhibit more marked domesticated traits at the morphological, physiological, and behavioral levels. We also show that genes involved in domestication and neural crest development and function comprise nearly 20% of SZ candidates, most of which exhibit altered expression profiles in the brain of SZ patients, specifically in areas involved in language processing. Based on these observations, we conclude that SZ may represent an abnormal ontogenetic itinerary for the human faculty of language, resulting, at least in part, from changes in genes important for the domestication syndrome and primarily involving the neural crest.

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“…The performance of P3 over the intervention period did not seem to correspond with the severity of his diagnoses. Theoretically, P3 should have performed worse than was observed over the intervention period due to developmental regression associated with the condition (von Tetzchner et al, 2013). Furthermore, P3 maintained task mastery in all fastening conditions 1 and 3 months post-intervention.…”

Section: Theme 1 Clinical Diagnosis and Performancementioning

confidence: 83%

Let's Get It On: Dressing Skill Development in Children With Vision Impairment and Children With Down Syndrome

2019

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Dressing is a fundamental independent living skill often haphazardly acquired via visual observation. For children with vision impairment and children with Down Syndrome (where vision impairment is a component), dressing skill acquisition can be delayed due to a reduced/absent visual modality. Independent living skills is an aspect of habilitation practice and training, designed to maximise independence in children and young people with vision impairment and prepare them for adulthood. This paper, presented in two parts, first details a systematic (UK based) survey exploring fastening use across a clothing sample of birth-adult clothing (N = 12,967). Study 1 presents a frequency distribution exploring types of fastenings used on clothing items from birth-adulthood. The data are fundamental in exploring the likelihood of fastening exposure across developmental phases. Further, Study 1 details the process behind developing a novel dressing skill intervention. Informed by Study 1, Study 2 qualitatively explored the effectiveness of an original resource/group-based intervention over a 10-week period. Eighteen children were recruited for the study, namely children with vision impairment (n = 9) and children with Down Syndrome (n = 9) aged 5-11 years. Collective and illustrative case studies are presented based on emergent themes from intervention observations. The findings reveal areas for consideration by Habilitation Specialists and the multidisciplinary team surrounding children with vision impairment and/or Down Syndrome as this may inform Habilitation Plans, and Educational Health Care Plan reports. The implications of this study extend beyond dressing skill development in children with vision impairment and/or Down Syndrome and inform resource development and subsequent practice when working with children with special educational needs and disabilities.

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Juvenile neuronal ceroid lipofuscinosis and education

Cited by 11 publications

References 52 publications

Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights

Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights

Schizophrenia and Human Self-Domestication: An Evolutionary Linguistics Approach

Let's Get It On: Dressing Skill Development in Children With Vision Impairment and Children With Down Syndrome

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