The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients
children; responsiveness; Medicine; Endocrinology & Metabolism; Genetics & Heredity; Research & Experimental; disease; scale; acid maltase deficiency; genotype-phenotype correlation; muscle function; muscular-dystrophy; natural course; validation; tone and motor problems; glycogen storage disease type II; tool development; scale development; motor function
Pompe disease is a lysosomal storage disorder characterized by progressive muscle weakness. With the emergence of new treatment options, psychometrically robust outcome measures are needed to monitor patients' clinical status. We constructed a motor function test that is easy and quick to use. The Quick Motor Function Test (QMFT) was constructed on the basis of the clinical expertise of several physicians involved in the care of Pompe patients; the Gross Motor Function Measure and the IPA/Erasmus MC Pompe survey. The test comprises 16 items. Validity and test reliability were determined in a cohort of 91 Pompe patients (5 to 76 years of age). In addition, responsiveness of the scale to changes in clinical condition over time was examined in a subgroup of 18 patients receiving treatment and 23 untreated patients. Interrater and intrarater reliabilities were good (intraclass correlation coefficients: 0.78 to 0.98 and 0.76 to 0.98). The test correlated strongly with proximal muscle strength assessed by hand held dynamometry and manual muscle testing (rs= 0.81, rs=0.89), and showed significant differences between patient groups with different disease severities. A clinical-empirical exploration to assess responsiveness showed promising results, albeit it should be repeated in a larger group of patients. In conclusion, the Quick Motor Function Test can reliably rate clinical severity and motor function in children and adults with Pompe disease.
van Capelle C I; van der Beek N A M E; de Vries J M; van Doorn P A; Duivenvoorden H J; Leshner R T; Hagemans M L C; van der Ploeg A T
Journal of Inherited Metabolic Disease
2012
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/10.1007/s10545-011-9388-3" target="_blank" rel="noreferrer noopener">10.1007/s10545-011-9388-3</a>
Quantifying behaviors of children with Sanfilippo syndrome: The Sanfilippo Behavior Rating Scale
Medicine; amygdala volume; autism; Behavior phenotype; Behavior rating scale; Endocrinology & Metabolism; Genetics & Heredity; kluver; management; mucopolysaccharidosis type iiia; MPSIII; Research & Experimental; Sanfilippo Syndrome; behavioral problems; trajectory; characteristics
The Sanfilippo Behavior Rating Scale (SBRS), a 68 item questionnaire, has been developed to assess the behavioral phenotype of children with Sanfilippo syndrome and its progression overtime. Fifteen scales rate orality, movement/activity, attention/self-control, emotional function including anger and fear, and social interaction. Items within scales intercorrelate; measures of internal consistency are adequate. Twelve scales are grouped into 4 abnormality clusters: Movement, Lack of fear, Social/emotional and Executive Dysfunction. A Loess age-trajectory analysis showed that Lack of Fear, Social/Emotional and Executive Dysfunction increased steadily with age; Orality and Mood/Anger/Aggression leveled off. Movement peaked around 6 years, then declined as children's excessive/purposeless actions stopped. Compared with standard scales, SBRS Movement was appropriately associated with the Vineland Motor scale; SBRS Lack of Fear had significant associations with the Autism Diagnostic Observation Schedule (ADOS), indicating a symptom overlap between Sanfilippo syndrome and autism. This suggests that reduced fearfulness may be the most salient/sensitive SBRS marker of disease progression. Volumetric MRI showed that increased Lack of Fear was significantly associated with reduced amygdala volume, consistent with our hypothesis that the behavior seen in Sanfilippo syndrome is a variant of Kluver-Bucy syndrome. Hippocampal volume loss had twice the effect on Social-Emotional Dysfunction as amygdala loss, consistent with a hippocampal role in attachment and social emotions. In conclusion, the SBRS assesses the Sanfilippo behavioral phenotype; it can measure behavior change that accompanies disease progression and/or results from treatment (C) 2015 Elsevier Inc. All rights reserved.
Shapiro E G; Nestrasil I; Ahmed A; Wey A; Rudser K R; Delaney K A; Rumsey R K; Haslett P A J; Whitley C B; Potegal M
Molecular Genetics and Metabolism
2015
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/10.1016/j.ymgme.2015.02.008" target="_blank" rel="noreferrer noopener">10.1016/j.ymgme.2015.02.008</a>
Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders
children; Medicine; Endocrinology & Metabolism; Genetics & Heredity; Research & Experimental; syndrome; mental-retardation; annotation; clinical variability; hunters; mild; sanfilippo b-disease; behavior; tone and motor problems; MPSI; MPSII; MPSIIIA; MPSIIIB; trajectory; characteristics; sleep disturbance; challenging behavior
The mucopolysaccharide disorders (MPS) are a group of recessively inherited metabolic disorders resulting in progressive physical and cognitive decline. MEDLINE, PsycINFO and Embase databases were searched, alongside manual screening, to identify relevant literature. Papers were included in the review if they were published in a peer reviewed journal and conducted empirical research into cognitive, motor, social or linguistic development or behaviour in one or more MPS disorders. Twenty-five papers were reviewed. Two papers used methodology of a sufficiently high standard to demonstrate a behavioural phenotype; both found sleep disturbance to be part of the phenotype of MPS III. Fearfulness and sleep disturbance were frequently observed in people with MPS I and II. Cognitive and motor impairment and decline, and challenging behaviour were highly prevalent in the severe form of MPS II. Cognitive decline and severe behavioural problems relating to aggression, hyperactivity, orality, unusual affect and temper tantrums were seen in MPS III. Sleep disturbance is part of the behavioural phenotype of MPS III, and challenging behaviour is highly prevalent in MPS II and MPS III, therefore the efficacy of behavioural interventions for these populations should be investigated. Further research into the behaviour and adaptive skills of children with MPS III and MPS IV is required.
Cross E M; Hare D J
Journal of Inherited Metabolic Disease
2013
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/10.1007/s10545-012-9572-0" target="_blank" rel="noreferrer noopener">10.1007/s10545-012-9572-0</a>