Gross motor profile in rett syndrome as determined by video analysis
tone and motor problems; Rett syndrome; trajectory; characteristics
Movement impairment is a fundamental but variable component of the Rett syndrome phenotype. This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate the impact of age, genotype, scoliosis and hand stereotypies. Factor analysis enabled the calculation of general and complex gross motor skills scores. Most subjects were able to sit, slightly less than half were able to walk and a minority were able to transfer without assistance. General gross motor skills declined with age and were poorer in those who had surgically treated scoliosis but not conservatively managed scoliosis. Complex gross motor skills did not decline with age and were better in those without scoliosis. Those with a p.R133C, p.R294X, or a p.R255X mutation appear to have better motor skills overall than those with a p.R270X or large deletion mutation. Motor scores were not related to the frequency of hand stereotypies. This information is useful for the clinician and family when planning support strategies and interventions.
Downs J A; Bebbington A; Jacoby P; Msall M E; McIlroy O; Fyfe S; Bahi-Buisson N; Kaufmann W E; Leonard H
Neuropediatrics
2008
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1055/s-0028-1104575" target="_blank" rel="noreferrer noopener">10.1055/s-0028-1104575</a>
Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia
Child; Female; Humans; Male; Adult; Severity of Illness Index; adolescent; Preschool; infant; Q3 Literature Search; retrospective studies; Age of Onset; Carbohydrate-Deficient Glycoprotein Syndrome/complications/diagnosis/genetics; Mental Disorders/diagnosis/etiology/genetics; Nervous System Diseases/diagnosis/etiology/genetics
OBJECTIVE: Congenital disorders of glycosylation (CDG), formerly called carbohydrate-deficient glycoprotein syndromes, constitute a newly identified group of multisystem disorders characterized by defective glycosylation of N-glycosylated proteins. The objective of this work was to describe precisely neurological findings in patients with type Ia CDG (CDG-Ia) and to compare our results with the literature. STUDY DESIGN: We retrospectively reviewed neurological and neurodevelopmental, neuroimaging, and genetic features in ten patients with CDG-Ia who mainly presented with neurological abnormalities during childhood and therefore were referred to a neuropediatrician or a neurogeneticist. RESULTS: Neurological manifestations had a static clinical course, dominated by mental retardation and cerebellar dysfunction, and acute episodes: stroke-like episodes and seizures. However, microcephaly, retinopathy, and polyneuropathy were progressive. All patients had severe global neurodevelopmental delay: only one was able to walk alone at ten years of age and only one could read. Marked heterogeneity in manifestations and delay of diagnosis was noted across the patients. Cerebellar hypoplasia was found by magnetic resonance imaging in all ten patients and olivopontocerebellar hypoplasia in four patients. As in the literature, there was no clear phenotype-mutation correlation. CONCLUSION: Our findings confirm the importance of a precise and complete description of the neurological and neuroradiological phenotype delineating the phenotype of CDG-Ia to increase the likelihood of diagnosing the disease.
2003
Miossec-Chauvet E; Mikaeloff Y; Heron D; Merzoug V; Cormier-Daire V; De Lonlay P; Matthijs G; Van Hulle C; Ponsot G; Seta N
Neuropediatrics
2003
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1055/s-2003-38614" target="_blank" rel="noreferrer">10.1055/s-2003-38614</a>
Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome)
Child; Female; Humans; Male; Disease Progression; Magnetic Resonance Imaging; Preschool; infant; Q3 Literature Search; Atrophy; Brain/abnormalities/pathology; Mental Retardation/etiology; Mucopolysaccharidosis III/pathology/physiopathology; Psychomotor Disorders/diagnosis/etiology
Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and seizures. Three patients, of 20 months to 12 years of age, were followed up for 3 years both clinically and by using brain magnetic resonance imaging (MRI). Our results suggest that in MPS III patients MRI findings, including atrophy and abnormal or delayed myelination, may precede the onset of overt neurological symptoms. The increasing neurological morbidity is accompanied by different degrees of progressive atrophic changes, mainly affecting the cerebral cortex and the corpus callosum. However, it appears that, across subjects, the rate of MRI changes is unrelated to the severity of the clinical phenotype. On this basis it could be argued that in MPS III the worsening of the neurological symptoms might not necessarily reflect only the progressive cerebral abnormalities detectable by MRI.
1999
Barone R; Nigro F; Triulzi F; Musumeci S; Fiumara A; Pavone L
Neuropediatrics
1999
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1055/s-2007-973503" target="_blank" rel="noreferrer">10.1055/s-2007-973503</a>
Follow-up in children with Joubert syndrome
Child; Cross-Sectional Studies; Female; Humans; infant; Male; Adult; Follow-Up Studies; Disease Progression; adolescent; Preschool; Syndrome; Newborn; retrospective studies; Disease Specific; Mental Retardation/complications; Ataxia/diagnosis/genetics/physiopathology; Cerebellum/abnormalities; Developmental Disabilities/diagnosis/genetics/physiopathology; Facies; Kidney Diseases/complications; Mesencephalon/abnormalities; Muscle Hypotonia/diagnosis/genetics/physiopathology; Ocular Motility Disorders/complications; Respiration Disorders/complications; Survivors/classification
Although Joubert syndrome (JS) was first reported in 1969 by Joubert et al (21), the long-term outcome is not yet documented. We report 19 children (4 pairs of siblings) from a single institution diagnosed with JS. Nine children were last seen between ages 10 and 18 years, seven between ages 1 and 4 years. Three children died before 3 years of age, showing marked breathing problems and minimal development. The 16 surviving children showed variable motor development, walking was typically achieved between 2 and 10 years, two children did not learn to walk. Cognitive development showed four with development quotient (DQ) of 30 or less and nine with DQ of 60-85, the others could not be judged confidently. Siblings did not show similar development and sex was not predicting outcome. The following oculomotor problems were seen: mystagmus in 11, ocular motor apraxia in six, isolated ptosis in two, and vertical gaze palsy in three. Additional features were retinal involvement in eight and kidney involvement in four, in one of them after normal previous ultrasound. In conclusion development of children with JS can be split into distinct subgroups, with one group dying at a young age. Those who survive show variable motor and cognitive development and can be grouped into those with DQ of less than 30 or those with DQ between 60 and 85. Ophthalmological and renal involvement may change or develop over the years and should be followed carefully.
1997
Steinlin M; Schmid M; Landau K; Boltshauser E
Neuropediatrics
1997
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1055/s-2007-973701" target="_blank" rel="noreferrer">10.1055/s-2007-973701</a>
Disorders of movement in Leigh syndrome
Child; Female; Humans; Male; Magnetic Resonance Imaging; Preschool; Q3 Literature Search; retrospective studies; Basal Ganglia Diseases/complications/enzymology/physiopathology; Basal Ganglia/enzymology/physiopathology; Brain/enzymology/physiopathology/radiography; Dystonia/complications/diagnosis/physiopathology; Electron Transport Complex IV/metabolism; Enzyme Repression; Leigh Disease/complications/diagnosis/physiopathology; Mental Disorders/etiology; Mitochondrial Encephalomyopathies/complications/enzymology; Movement Disorders/complications/diagnosis/physiopathology
Leigh syndrome (LS) is the clinical prototype of a genetically-determined mitochondrial encephalopathy. Twenty-two of 34 patients with LS had evidence of a movement disorder (MD). Dystonia, the most common MD, was present in 19 cases, rigidity in 4, tremor in 2, chorea in 2, hypokinesia in 2, myoclonus in 1, and tics in 1. Dystonia was most commonly multifocal at onset and showed progression in six patients. In half of the cases an enzymatic defect was detected, most commonly cytochrome C oxidase. The neuroradiologic findings showed prominent basal ganglia lesions in 20/21 patients. Putamen, caudate, substantia nigra and globus pallidus were involved in this order of frequency. This experience was reflected in a literature review encompassing 284 cases of LS. However, only 26.4% had MD. Eleven patients, including one of our cases, presented as the primary torsion dystonia phenotype. There are clinical and pathological similarities between LS and other metabolic diseases affecting the central nervous system. The enhanced vulnerability of the nervous system to metabolic stress and the resemblance in the distribution of the pathology of these diverse conditions suggests a common pathogenetic mechanism. An excitotoxin-mediated mechanism is favored, one which might account for the frequent involvement of the basal ganglia in LS.
1993
Macaya A; Munell F; Burke RE; De Vivo DC
Neuropediatrics
1993
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1055/s-2008-1071515" target="_blank" rel="noreferrer">10.1055/s-2008-1071515</a>
Aspects Of Palliative Care In Child Neurology
Neurology; Palliative Therapy; Bereavement Counseling; Central Nervous System Tumor; Child; Child Care; Chromosome Aberration; Controlled Study; Coordination; Diagnosis; Family Study; Germany; Human; Human Experiment; Metabolic Disorder; Neurologic Disease; Only Child; Pain; Palliative Care; Quality Of Life; Spiritual Care; Terminal Care
Pediatric palliative medicine/care (PPC) is an approach to care that focuses on improving the quality of life of children facing a life limiting condition (LLC). LLCs are classified by the ACT (Association for children with life-threatening or terminal conditions and their families) concept in four groups: (i) conditions for which treatment may be feasible but can fail (ii) conditions in which premature deaths is inevitable but where long periods of participation in normal activities may be feasible (iii) progressive conditions without curative options where treatment is exclusively palliative (iv) irreversible but non-progressive conditions causing likelihood of premature death through complications. Neurological LLCs in children are represented in all four groups according to the ACT concept. Furthermore neuropediatric LLCs comprise up to 70% of the diagnoses in PPC subject to the criteria of a neurological disease entity (inclusion of CNS tumors, chromosomal anomalies, metabolic disorders etc.). The clinical course in neuropediatric LLCs differs from the course of oncological LLCs. Therefore the needs of the affected children, their families and their requirements of the PPC providers are different. In Germany PPC is often recognized solely as an end of life care. Typically, PPC accomplishes the objective of improving quality of life through symptom management e.g., pain control, coordination of care, communication and by providing psychosocial and spiritual support to the child and the family also in bereavement counseling. Within in the last years three different levels of specialized PPC have been established in Germany.
Nolte-Buchholtz S; Von Der Hagen M
Neuropediatrics
2016
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
DOI: 10.1055/s-0036-1583743
Family-oriented Palliative Care: Parents' Perspective And Experience
Family Study; Palliative Therapy; Brain Damage; Child; Chromosome Disorder; Chromosome Disorders; Complication; Controlled Study; Dyspnea; Gene Deletion; Hospice; Hospital; Human; Length Of Stay; Life Expectancy; Medical Service; Metabolic Disorder; Neuromuscular Disease; Only Child; Pain; Palliative Care; Quality Of Life; Seizure; Spasticity; Spiritual Care; Symptom
Palliative care is needed for children with neurodegenerative and progressive neuromuscular diseases, inborn genetic (e.g., chromosomal disorders, deletion syndromes) or metabolic disorders, as well as for children with early brain lesions which can decrease life-expectancy due to complications. Care for children with life-shortening diseases is a major challenge for parents and the whole family. A vast majority of families prefer to live at home with their severely sick child, and they also want to avoid admissions to hospital and stay at their familiar environment for the final period of life. To cope with all these demands, many families need a lot of support. By means of early integration of palliative perspective and care support can be adapted to the needs of the child and the family. Many children are living at home with their parents for many years. In many cases, quality of life and a stable familiar environment can be assured only by substantial external assistance. Support by specialized palliative care teams (SAPV), hospices and hospice services is able to unburden families. Important tasks are continuous and 24-hour medical services for symptom control (regarding e.g., pain, dyspnea, seizures, spasticity) as well as psychological, emotional, social and spiritual care for patients and all other family members.
Pietz J
Neuropediatrics
2016
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
DOI: 10.1055/s-0036-1583746