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Quality-of-life in children with Hurler syndrome who have not yet been transplanted and those who are one year post transplant
S56
Abstracts
CGM. MPS IH participants showed smaller volumes of WM. Comparison within MPS groups: MPS II has larger CC, CGM and WM than MPS IH. Discussion: Brain characteristics in MPS disorders are disease specific but also show some common elements. All groups showed large ventricular volume compared to controls. All groups of MPS showed decreased CC compared to controls but the effects were the greatest in the MPS IH. As both groups of MPS I showed decreased CC, the large effect size in MPS IH points to both treatment (transplant) and disease effects. Reduced CC volume in Hurler syndrome has also been observed in a canine model. The markedly larger volume of CGM in MPS II may result from build up of the glycosaminoglycans (GAG). doi:10.1016/j.ymgme.2012.11.135
122 Quality-of-life in children with Hurler syndrome who have not yet been transplanted and those who are one year post transplant Alicia Kunin-Batson, Brianna Yund, Kyle Rudser, Elsa Shapiro, University of Minnesota, Minneapolis, MN, USA Background: Hurler syndrome (MPS IH) is an inherited metabolic disorder that manifests in infancy and progressively affects most organ systems. Allogeneic hematopoietic stem cell transplantation (HSCT) can lead to long-term metabolic correction. An important measure of success of transplantation is not only longevity but also improvement in functional status and quality of life (QOL). Little is known about QOL and functional status of very young children following HSCT for MPS IH. We examined parent-report of children's QOL and adaptive functioning in a small cohort of children with MPS IH who were either pre- (n = 8) or post-HSCT (n = 7). Methods: Parents of young children with MPS IH who were between the ages of 3 months and 57 months at the time of evaluation completed the Infant Toddler Quality of Life Questionnaire (ITQOL) and the Vineland Adaptive Behavior Scales (VABS) as part of their child's participation in a longitudinal study. Results: Parent ratings of children's functional behavior (VABS) fell in the average range though lower than population norms on scales sampling functional communication, daily living skills, and global adaptive composite. Parent ratings of children who were pre-HSCT tended to be lower in these domains (reflecting more difficulty) than those post- HSCT. Socialization was an area of strength regardless of transplant status and not discrepant from population norms. ITQOL ratings were lower than averages from a healthy community-based reference group on scales of physical functioning, growth/development, bodily pain, and general health. Lower scores were noted on scales of the emotional and time impact on parents' functioning. Parent ratings of children with MPS IH were similar to the reference group on temperament/mood, general behavior, ability to get along with others, and family cohesion. Conclusions: The VABS and ITQOL sample distinct areas of strength and weakness in children with MPS IH and may be useful in measuring children's functioning pre- and post-HSCT. doi:10.1016/j.ymgme.2012.11.136
123 Mucopolysaccharidosis type II clinical case Ludmila Kuzenkova, Tatyana Podkletnova, Leyla Namazova-Baranova, Anna Gevorkyan, Nato Vashakmadze, Natalya Zhurkova, Nadezhda Nechaeva, Research Centre for Children's Health of RAMS, Moscow, Russian Federation
Patient A. Six years and 8 months. Anamnesis: During the first year of the patient's life, he grew and developed according to his age. Due to changes in facial features suggesting Hurler syndrome, and based on a family history (the mother's brother was affected) the diagnosis of mucopolysaccharidosis type II was confirmed at 2 years age when examined in MGSC Moscow. Based on phenotypic features and examination findings (i.e., increased dermatan sulfate and heparan sulfate in the urine, DNA diagnostics data with IDS mutation R233G) the diagnosis was made. Complaints: Noisy nasal breathing, frequent ear infections, adenoiditis, hearing loss, enlarged abdomen, stiffness of large and small joints, retarded mental development. Diagnosis mucopolysaccharidosis type II (Hunter disease). Retarded psycho-speech development. Secondary cardiomyopathy. Failure of the mitral, tricuspid valve and pulmonary valve. CF 1 degree. Bilateral acute otitis media. Hypertrophy of the adenoids of second degree. Dysontogenetic thoracolumbar scoliosis of first degree. Contractures of large and small joints of the extremities of second degree. Valgus deformity of the lower extremities. Treatment started at the age of 4 years 2 months was initiated: Idursulfase 0.5 mg/kg/ injection. Now, after receiving more than 90 infusions, no side effects of the infusion have been observed. Rehabilitation treatment: physical therapy, breathing exercises, development of large and fine motor skills. Results of of the LFT treatment: Facial changes decrease, accelerating growth, improvement of hearing, memory, attention, exercise capacity, reducing the frequency and severity of SARS, increase range of motion in joints, reducing the size of internal organs. doi:10.1016/j.ymgme.2012.11.137
124 Particular features of neurological symptoms with children suffering from MPS syndrome type II Ludmila Kuzenkova, Tatyana Podkletnova, Leyla Namazova-Baranova, Anna Gevorkyan, Nato Vashakmadze, Natalya Zhurkova, Nadezhda Nechaeva, Research Centre for Children's Health of RAMS, Moscow, Russian Federation Objective: To study the incidence and characteristics of neurological symptoms in children with mucopolysaccharidosis (MPS) type II. Patients and methods: 58 patients with MPS types, of which MPS II type — 31 children (53%), MPS type I — 6 (10%), MPS type III — 14 (24%), MPS type IV — 3 (5%), MPS type VI — 4 (8%). The average age of patients with MPS II was 9.5± 2.9 years. The examination of this group of patients aimed to find out the range and incidence of neurological symptoms. Results: The structure of the neurological symptoms in children: carpal tunnel syndrome — 90%; symptomatic epilepsy — 41%; pseudobulbar syndrome — 50%; central tetraparesis — 31%; central tetraparesis myelopathy — 25%; hydrocephalus — 37%; sleep disorders — 41%; behavioral disorders — 56%; regression of intellectual skills — 62%; delay of psycho-speech development — 81% Conclusions: 1. Neurological symptoms in children with MPS II and I have been observed in 100% of cases. 2. Basic neurological syndrome complexes with MPS type II include: delay in psychospeech development, regression of intellectual skills, behavioral disorders, sleep disorders, carpal tunnel syndrome, hydrocephalus, cervical myelopathy, central tetraparesis, pseudobulbar syndrome, symptomatic epilepsy. 3. Carpal tunnel syndrome and delayed psychospeech development have occurred in most patients (90% and 81%, respectively), and are most common in MPS type II sufferers. 4. Symptoms of cervical myelopathy (25%) occur most rarely in patients with MPS type II due to lower incidence of the spine in patients with MPS type II
Abstracts
CGM. MPS IH participants showed smaller volumes of WM. Comparison within MPS groups: MPS II has larger CC, CGM and WM than MPS IH. Discussion: Brain characteristics in MPS disorders are disease specific but also show some common elements. All groups showed large ventricular volume compared to controls. All groups of MPS showed decreased CC compared to controls but the effects were the greatest in the MPS IH. As both groups of MPS I showed decreased CC, the large effect size in MPS IH points to both treatment (transplant) and disease effects. Reduced CC volume in Hurler syndrome has also been observed in a canine model. The markedly larger volume of CGM in MPS II may result from build up of the glycosaminoglycans (GAG). doi:10.1016/j.ymgme.2012.11.135
122 Quality-of-life in children with Hurler syndrome who have not yet been transplanted and those who are one year post transplant Alicia Kunin-Batson, Brianna Yund, Kyle Rudser, Elsa Shapiro, University of Minnesota, Minneapolis, MN, USA Background: Hurler syndrome (MPS IH) is an inherited metabolic disorder that manifests in infancy and progressively affects most organ systems. Allogeneic hematopoietic stem cell transplantation (HSCT) can lead to long-term metabolic correction. An important measure of success of transplantation is not only longevity but also improvement in functional status and quality of life (QOL). Little is known about QOL and functional status of very young children following HSCT for MPS IH. We examined parent-report of children's QOL and adaptive functioning in a small cohort of children with MPS IH who were either pre- (n = 8) or post-HSCT (n = 7). Methods: Parents of young children with MPS IH who were between the ages of 3 months and 57 months at the time of evaluation completed the Infant Toddler Quality of Life Questionnaire (ITQOL) and the Vineland Adaptive Behavior Scales (VABS) as part of their child's participation in a longitudinal study. Results: Parent ratings of children's functional behavior (VABS) fell in the average range though lower than population norms on scales sampling functional communication, daily living skills, and global adaptive composite. Parent ratings of children who were pre-HSCT tended to be lower in these domains (reflecting more difficulty) than those post- HSCT. Socialization was an area of strength regardless of transplant status and not discrepant from population norms. ITQOL ratings were lower than averages from a healthy community-based reference group on scales of physical functioning, growth/development, bodily pain, and general health. Lower scores were noted on scales of the emotional and time impact on parents' functioning. Parent ratings of children with MPS IH were similar to the reference group on temperament/mood, general behavior, ability to get along with others, and family cohesion. Conclusions: The VABS and ITQOL sample distinct areas of strength and weakness in children with MPS IH and may be useful in measuring children's functioning pre- and post-HSCT. doi:10.1016/j.ymgme.2012.11.136
123 Mucopolysaccharidosis type II clinical case Ludmila Kuzenkova, Tatyana Podkletnova, Leyla Namazova-Baranova, Anna Gevorkyan, Nato Vashakmadze, Natalya Zhurkova, Nadezhda Nechaeva, Research Centre for Children's Health of RAMS, Moscow, Russian Federation
Patient A. Six years and 8 months. Anamnesis: During the first year of the patient's life, he grew and developed according to his age. Due to changes in facial features suggesting Hurler syndrome, and based on a family history (the mother's brother was affected) the diagnosis of mucopolysaccharidosis type II was confirmed at 2 years age when examined in MGSC Moscow. Based on phenotypic features and examination findings (i.e., increased dermatan sulfate and heparan sulfate in the urine, DNA diagnostics data with IDS mutation R233G) the diagnosis was made. Complaints: Noisy nasal breathing, frequent ear infections, adenoiditis, hearing loss, enlarged abdomen, stiffness of large and small joints, retarded mental development. Diagnosis mucopolysaccharidosis type II (Hunter disease). Retarded psycho-speech development. Secondary cardiomyopathy. Failure of the mitral, tricuspid valve and pulmonary valve. CF 1 degree. Bilateral acute otitis media. Hypertrophy of the adenoids of second degree. Dysontogenetic thoracolumbar scoliosis of first degree. Contractures of large and small joints of the extremities of second degree. Valgus deformity of the lower extremities. Treatment started at the age of 4 years 2 months was initiated: Idursulfase 0.5 mg/kg/ injection. Now, after receiving more than 90 infusions, no side effects of the infusion have been observed. Rehabilitation treatment: physical therapy, breathing exercises, development of large and fine motor skills. Results of of the LFT treatment: Facial changes decrease, accelerating growth, improvement of hearing, memory, attention, exercise capacity, reducing the frequency and severity of SARS, increase range of motion in joints, reducing the size of internal organs. doi:10.1016/j.ymgme.2012.11.137
124 Particular features of neurological symptoms with children suffering from MPS syndrome type II Ludmila Kuzenkova, Tatyana Podkletnova, Leyla Namazova-Baranova, Anna Gevorkyan, Nato Vashakmadze, Natalya Zhurkova, Nadezhda Nechaeva, Research Centre for Children's Health of RAMS, Moscow, Russian Federation Objective: To study the incidence and characteristics of neurological symptoms in children with mucopolysaccharidosis (MPS) type II. Patients and methods: 58 patients with MPS types, of which MPS II type — 31 children (53%), MPS type I — 6 (10%), MPS type III — 14 (24%), MPS type IV — 3 (5%), MPS type VI — 4 (8%). The average age of patients with MPS II was 9.5± 2.9 years. The examination of this group of patients aimed to find out the range and incidence of neurological symptoms. Results: The structure of the neurological symptoms in children: carpal tunnel syndrome — 90%; symptomatic epilepsy — 41%; pseudobulbar syndrome — 50%; central tetraparesis — 31%; central tetraparesis myelopathy — 25%; hydrocephalus — 37%; sleep disorders — 41%; behavioral disorders — 56%; regression of intellectual skills — 62%; delay of psycho-speech development — 81% Conclusions: 1. Neurological symptoms in children with MPS II and I have been observed in 100% of cases. 2. Basic neurological syndrome complexes with MPS type II include: delay in psychospeech development, regression of intellectual skills, behavioral disorders, sleep disorders, carpal tunnel syndrome, hydrocephalus, cervical myelopathy, central tetraparesis, pseudobulbar syndrome, symptomatic epilepsy. 3. Carpal tunnel syndrome and delayed psychospeech development have occurred in most patients (90% and 81%, respectively), and are most common in MPS type II sufferers. 4. Symptoms of cervical myelopathy (25%) occur most rarely in patients with MPS type II due to lower incidence of the spine in patients with MPS type II