After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the first 18 months of age has been documented and acquisitions...After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the first 18 months of age has been documented and acquisitions of motor development are an important outcome, but description of its course is scarce. Objective: To describe the motor development in an IPD patient and its correlation with clinical conditions during the first 18 months on ERT with rhGAA. Methods: By longitudinal observational study of an IPD case at early stage. Clinical and biochemical characteristics were obtained from patient records. Echocardiogram assessed cardiac indexes and the urinary biomarker—glucose tetrasaccharide (Glc4)—was obtained by HPLC/UV, following sample derivatization with butyl 4-amino benzoate and analysis on a C18 stationary phase column. Motor skills were evaluated with Alberta Infant of Motor Scale (AIMS) and motor delay was considered as motor percentile (p) below 10. Descriptive statistical analysis was carried out and t-test was used to calculate the differences among means, with significance level defined as p value < 0.05. Results: After ERT beginning amelioration of the cardiomyopathy with reduced left ventricle mass index (LVMI) from the 2nd month onwards was observed, but above the upper normal limit for healthy children and CRIM-positive IPD patients. Although GAA antibodies level remained above the recommended titers and fluctuating elevation of Glc4 quantified, motor development analysis showed an ascendant curve expected for age within achievement of independent ambulation. Motor delay after pneumonia and maintenance of hypotonia were noted. Variation of Glc4 appeared long after a transitory intercurrence. Conclusion: In an IPD case, motor development can have normal evolution despite hypotonia. Motor analysis seems to be sensitive to follow-up clinical intercurrences. To elucidate the interaction among prognostic factors and outcomes, further clinical studies need to be conducted.展开更多
AHEMD-SR(Affordances in the Home Environment for Motor Development-Self Report)was applied to children from 18 to 42 months(N=132),from a coastal municipality of Portugal.The results revealed that the father’s income...AHEMD-SR(Affordances in the Home Environment for Motor Development-Self Report)was applied to children from 18 to 42 months(N=132),from a coastal municipality of Portugal.The results revealed that the father’s income provides more conditions for motor development stimulation,and that a higher number of offspring may result in less conditions for the younger ones.Having a mother,whatever her academic qualifications,is also a factor that promotes better conditions.Thus,in families with fewer resources and more children,it is strategically advisable to technically support the mother.The kindergarten appears to be an equalizer factor for opportunities for access to motor stimulation resources.展开更多
Motor development at late preterm infants has significant importance as it composes the picture of the severe evidences of motor impairments or other developmental difficulties. Early detection is crucial as early int...Motor development at late preterm infants has significant importance as it composes the picture of the severe evidences of motor impairments or other developmental difficulties. Early detection is crucial as early intervention is the unique immediate solution option to catch up the developmental milestones. Method: Α systematic search for scientific articles of the decade 2010-2020 investigating the motor profile of late preterm infants was conducted. Results: The search identified 9 studies, many of which highlighted the risk of motor and developmental delays even at 36 months of age. Conclusions: The stability of motor and developmental delays indicates the need of further investigation at a later age and intervention to avoid possible academic difficulties.展开更多
Developmental plagiocephaly (DP) has been an increasing problem since the successful “back to sleep campaign”. The referrals for DP have increased by >400% during the years 2004 to 2008. Many infants spend less t...Developmental plagiocephaly (DP) has been an increasing problem since the successful “back to sleep campaign”. The referrals for DP have increased by >400% during the years 2004 to 2008. Many infants spend less time in the prone position nowadays and some of the risk factors for DP are as follows: less than 3 times per day for the tummy time, torticollis and slow achievement of motor milestones. There is a need for better information to the parents but also for other strategies to prevent DP. The aim of this study was to investigate the effect of a special pillow and thus to reduce pressure on the infant head. Method: infants aged zero to two months were included in the study. They were randomized to either intervention group or control group. Head shape was investigated on two occasions, on the second occasion motor development, mobility and muscle function of the neck were also investigated. The parents were asked about tummy time and sleep position. All infants were investigated by the same physical therapist, blinded to group belonging. Result: seven infants had CVAI >3.5 on the last assessment, five of these had not used any method to reduce pressure. Fishers exact test showed a tendency where infants with reduced pressure on the head had less DP (P 0.08). Paired t test showed significant decrease in CVAI for the infants who had had reduced pressure on the head (P 0.01). Among these infants the CVAI was zero for 47% in the last assessment. For the infants who had not had a reduction of pressure on the head, there was no indication of a decrease of CVAI (P 0.45), and only 12% of these infants had a CVAI that was zero in the last assessment. Conclusion: this pilot study shows that a specially designed pillow may prevent DP in young infants. However, a larger sample is needed to confirm or disprove this. The study is planned to go on until there are 200 participants.展开更多
Developmental plagiocephaly (DP) has been an increasing problem since the successful “back to sleep campaign”. The referrals for DP have increased by more than 400% during the years 2004 to 2008. Many infants spend ...Developmental plagiocephaly (DP) has been an increasing problem since the successful “back to sleep campaign”. The referrals for DP have increased by more than 400% during the years 2004 to 2008. Many infants spend less time in the prone position nowadays and some of the risk factors for DP are: tummy time less than 3 times per day, torticollis and slow achievement of motor milestones. Improved information for the parents is needed but also other strategies to prevent DP. This study is a continuum of an earlier pilot study;the aim was to investigate the effect of a pillow, designed to reduce pressure on the infant head. Method: Infants aged zero to two months were included in the study. They were randomized to either intervention group or control group. Head shape was investigated on two occasions, on the second occasion motor development, mobility and muscle function of the neck were also investigated. The parents were asked about tummy time and sleep position. All infants were investigated by the same physical therapist, blinded to group belonging. Result: Fishers exact test showed that it was more common with decreased CVAI among infants in the intervention group (P 0.001). Paired t test showed significant decrease in CVAI for the intervention group (P 0.002), but not for the control group (P 0.96). Conclusion: This study shows that a specially designed pillow can decrease DP in young infants.展开更多
Background Recombinant human growth hormone(rhGH)therapy has shown to improve height and body composition in children with Prader–Willi syndrome(PWS),the evidence of early rhGH treatment on motor and mental developme...Background Recombinant human growth hormone(rhGH)therapy has shown to improve height and body composition in children with Prader–Willi syndrome(PWS),the evidence of early rhGH treatment on motor and mental development is still accumulating.This study explored the time effect on psychomotor development,anthropometric indexes,and safety for infants and young children with PWS.Methods A phase 3,single-arm,multicenter,self-controlled study was conducted in six sites.Patients received rhGH at 0.5 mg/m2/day for first four weeks,and 1 mg/m2/day thereafter for up to 52 weeks.Motor development was measured using Peabody Developmental Motor Scales-second edition,mental development using Griffiths Development Scales-Chinese(GDS-C).Height standard deviation score(SDS),body weight SDS,and body mass index(BMI)SDS were also assessed.Results Thirty-five patients were enrolled totally.Significant improvements were observed in height,body weight,and BMI SDS at week 52;GDS-C score showed significant improvement in general quotient(GQ)and sub-quotients.In a linear regression analysis,total motor quotient(TMQ),gross motor quotient(GMQ),and fine motor quotient were negatively correlated with age;however,treatment may attenuate deterioration of TMQ and GMQ.Changes in GQ and locomotor sub-quotient in<9-month group were significantly higher than≥9-month group.Mild to moderate severity adverse drug reactions were reported in six patients.Conclusion Fifty-two-week treatment with rhGH improved growth,BMI,mental development,and lessened the deterioration of motor function in infants and young children with PWS.Improved mental development was more pronounced when instituted in patients<9 months old.展开更多
Primary impairments of developmental coordination disorder (DCD) include impairments in motor skill, motor learning, and imitation. Such difficulties present challenges for individuals with DCD and may persist into ad...Primary impairments of developmental coordination disorder (DCD) include impairments in motor skill, motor learning, and imitation. Such difficulties present challenges for individuals with DCD and may persist into adulthood, negatively impacting daily life in school, work, and social domains. A better understanding of the neural correlates of motor and imitation impairments in DCD holds the potential for informing development of treatment approaches to address these impairments. Although the disorder is assumed to be of neurological origin, little is known of the brain-based etiology of DCD. In recent years the discovery of a fronto-parietal circuit—known as the mirror neuron system—has enabled researchers to better understand imitation, general motor functions, and aspects of social cognition. Given its involvement in imitation and other motor functions, we propose that dysfunction in the mirror neuron system may underlie the characteristic impairments of DCD. We review literature pertaining to the mirror neuron system and develop a theory of disordered mirror neuron functioning in DCD. Finally, we review the limited neuroimaging literature available on neural correlates of DCD and show that the findings from those investigations are congruent with a mirror neuron system theory of DCD. Future research in this population should be designed to investigate specifically mirror neuron regions in individuals with DCD during skilled motor tasks and imitation in particular.展开更多
Introduction: The MNRI (Masgutova Neurosensorimotor Reflex Integration) method was developed in 1989 in Russia and has spread world-wide to treat individuals with certain types reflex development deficits, behavior di...Introduction: The MNRI (Masgutova Neurosensorimotor Reflex Integration) method was developed in 1989 in Russia and has spread world-wide to treat individuals with certain types reflex development deficits, behavior disorders, disorders of speech or language development, and learning disabilities. MNRI is based on techniques called “repatterning” or remodulation, meaning re-education, recoding the reflex nerve pathways specific for dynamic and postural reflex schemes. Objectives: Repatterning activates the extra pyramidal nervous system responsible for automatic mechanisms and processes, the extension of links between neurons, the growth of neural nets, myelination, and the creation of new nerve routing. This potential result was tested utilizing urinary measurements of the following neurotransmitters: epinephrine, norepinephrine, dopamine, DOPAC, serotonin, 5-HIAA, glycine, taurine, GABA, glutamate, PEA, and histamine. Methods: Neurological impact of the Masgutova Neurosensorimotor Reflex Method on the magnitude of changes in neurotransmitters was assessed by an external controlled and double-blind method using patients from one of the four diagnosis groups: 1) global developmental disorders;2) cerebral palsy, Traumatic Brain Injury (TBI), Acute Brain Injury (ABI), and seizures;3) ADD/ADHD;and 4) anxiety disorders. Results: The post-MNRI results in participants show a tendency for regulation of the above neurotransmitters resulting in their calming down, decrease of hypervigilance, stress resilience increase, improvements in behavioral and emotional regulation, positive emotions, and cognitive processes control. Conclusion: The application of the Masgutova Neurosensorimotor Reflex Method as a therapy modality offers a novelty paradigm for the treatment using neuro- and immune-modulation technologies presenting a non-pharmaceutical approach, based on use of neurosensorimotor reflex circuit concept.展开更多
文摘After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the first 18 months of age has been documented and acquisitions of motor development are an important outcome, but description of its course is scarce. Objective: To describe the motor development in an IPD patient and its correlation with clinical conditions during the first 18 months on ERT with rhGAA. Methods: By longitudinal observational study of an IPD case at early stage. Clinical and biochemical characteristics were obtained from patient records. Echocardiogram assessed cardiac indexes and the urinary biomarker—glucose tetrasaccharide (Glc4)—was obtained by HPLC/UV, following sample derivatization with butyl 4-amino benzoate and analysis on a C18 stationary phase column. Motor skills were evaluated with Alberta Infant of Motor Scale (AIMS) and motor delay was considered as motor percentile (p) below 10. Descriptive statistical analysis was carried out and t-test was used to calculate the differences among means, with significance level defined as p value < 0.05. Results: After ERT beginning amelioration of the cardiomyopathy with reduced left ventricle mass index (LVMI) from the 2nd month onwards was observed, but above the upper normal limit for healthy children and CRIM-positive IPD patients. Although GAA antibodies level remained above the recommended titers and fluctuating elevation of Glc4 quantified, motor development analysis showed an ascendant curve expected for age within achievement of independent ambulation. Motor delay after pneumonia and maintenance of hypotonia were noted. Variation of Glc4 appeared long after a transitory intercurrence. Conclusion: In an IPD case, motor development can have normal evolution despite hypotonia. Motor analysis seems to be sensitive to follow-up clinical intercurrences. To elucidate the interaction among prognostic factors and outcomes, further clinical studies need to be conducted.
基金Funding acknowledgements:This study was partially supported by the Portuguese Foundation for Science and Technology,I.P.under Grant number UIDP/04748/2020。
文摘AHEMD-SR(Affordances in the Home Environment for Motor Development-Self Report)was applied to children from 18 to 42 months(N=132),from a coastal municipality of Portugal.The results revealed that the father’s income provides more conditions for motor development stimulation,and that a higher number of offspring may result in less conditions for the younger ones.Having a mother,whatever her academic qualifications,is also a factor that promotes better conditions.Thus,in families with fewer resources and more children,it is strategically advisable to technically support the mother.The kindergarten appears to be an equalizer factor for opportunities for access to motor stimulation resources.
文摘Motor development at late preterm infants has significant importance as it composes the picture of the severe evidences of motor impairments or other developmental difficulties. Early detection is crucial as early intervention is the unique immediate solution option to catch up the developmental milestones. Method: Α systematic search for scientific articles of the decade 2010-2020 investigating the motor profile of late preterm infants was conducted. Results: The search identified 9 studies, many of which highlighted the risk of motor and developmental delays even at 36 months of age. Conclusions: The stability of motor and developmental delays indicates the need of further investigation at a later age and intervention to avoid possible academic difficulties.
文摘Developmental plagiocephaly (DP) has been an increasing problem since the successful “back to sleep campaign”. The referrals for DP have increased by >400% during the years 2004 to 2008. Many infants spend less time in the prone position nowadays and some of the risk factors for DP are as follows: less than 3 times per day for the tummy time, torticollis and slow achievement of motor milestones. There is a need for better information to the parents but also for other strategies to prevent DP. The aim of this study was to investigate the effect of a special pillow and thus to reduce pressure on the infant head. Method: infants aged zero to two months were included in the study. They were randomized to either intervention group or control group. Head shape was investigated on two occasions, on the second occasion motor development, mobility and muscle function of the neck were also investigated. The parents were asked about tummy time and sleep position. All infants were investigated by the same physical therapist, blinded to group belonging. Result: seven infants had CVAI >3.5 on the last assessment, five of these had not used any method to reduce pressure. Fishers exact test showed a tendency where infants with reduced pressure on the head had less DP (P 0.08). Paired t test showed significant decrease in CVAI for the infants who had had reduced pressure on the head (P 0.01). Among these infants the CVAI was zero for 47% in the last assessment. For the infants who had not had a reduction of pressure on the head, there was no indication of a decrease of CVAI (P 0.45), and only 12% of these infants had a CVAI that was zero in the last assessment. Conclusion: this pilot study shows that a specially designed pillow may prevent DP in young infants. However, a larger sample is needed to confirm or disprove this. The study is planned to go on until there are 200 participants.
文摘Developmental plagiocephaly (DP) has been an increasing problem since the successful “back to sleep campaign”. The referrals for DP have increased by more than 400% during the years 2004 to 2008. Many infants spend less time in the prone position nowadays and some of the risk factors for DP are: tummy time less than 3 times per day, torticollis and slow achievement of motor milestones. Improved information for the parents is needed but also other strategies to prevent DP. This study is a continuum of an earlier pilot study;the aim was to investigate the effect of a pillow, designed to reduce pressure on the infant head. Method: Infants aged zero to two months were included in the study. They were randomized to either intervention group or control group. Head shape was investigated on two occasions, on the second occasion motor development, mobility and muscle function of the neck were also investigated. The parents were asked about tummy time and sleep position. All infants were investigated by the same physical therapist, blinded to group belonging. Result: Fishers exact test showed that it was more common with decreased CVAI among infants in the intervention group (P 0.001). Paired t test showed significant decrease in CVAI for the intervention group (P 0.002), but not for the control group (P 0.96). Conclusion: This study shows that a specially designed pillow can decrease DP in young infants.
文摘Background Recombinant human growth hormone(rhGH)therapy has shown to improve height and body composition in children with Prader–Willi syndrome(PWS),the evidence of early rhGH treatment on motor and mental development is still accumulating.This study explored the time effect on psychomotor development,anthropometric indexes,and safety for infants and young children with PWS.Methods A phase 3,single-arm,multicenter,self-controlled study was conducted in six sites.Patients received rhGH at 0.5 mg/m2/day for first four weeks,and 1 mg/m2/day thereafter for up to 52 weeks.Motor development was measured using Peabody Developmental Motor Scales-second edition,mental development using Griffiths Development Scales-Chinese(GDS-C).Height standard deviation score(SDS),body weight SDS,and body mass index(BMI)SDS were also assessed.Results Thirty-five patients were enrolled totally.Significant improvements were observed in height,body weight,and BMI SDS at week 52;GDS-C score showed significant improvement in general quotient(GQ)and sub-quotients.In a linear regression analysis,total motor quotient(TMQ),gross motor quotient(GMQ),and fine motor quotient were negatively correlated with age;however,treatment may attenuate deterioration of TMQ and GMQ.Changes in GQ and locomotor sub-quotient in<9-month group were significantly higher than≥9-month group.Mild to moderate severity adverse drug reactions were reported in six patients.Conclusion Fifty-two-week treatment with rhGH improved growth,BMI,mental development,and lessened the deterioration of motor function in infants and young children with PWS.Improved mental development was more pronounced when instituted in patients<9 months old.
文摘Primary impairments of developmental coordination disorder (DCD) include impairments in motor skill, motor learning, and imitation. Such difficulties present challenges for individuals with DCD and may persist into adulthood, negatively impacting daily life in school, work, and social domains. A better understanding of the neural correlates of motor and imitation impairments in DCD holds the potential for informing development of treatment approaches to address these impairments. Although the disorder is assumed to be of neurological origin, little is known of the brain-based etiology of DCD. In recent years the discovery of a fronto-parietal circuit—known as the mirror neuron system—has enabled researchers to better understand imitation, general motor functions, and aspects of social cognition. Given its involvement in imitation and other motor functions, we propose that dysfunction in the mirror neuron system may underlie the characteristic impairments of DCD. We review literature pertaining to the mirror neuron system and develop a theory of disordered mirror neuron functioning in DCD. Finally, we review the limited neuroimaging literature available on neural correlates of DCD and show that the findings from those investigations are congruent with a mirror neuron system theory of DCD. Future research in this population should be designed to investigate specifically mirror neuron regions in individuals with DCD during skilled motor tasks and imitation in particular.
文摘Introduction: The MNRI (Masgutova Neurosensorimotor Reflex Integration) method was developed in 1989 in Russia and has spread world-wide to treat individuals with certain types reflex development deficits, behavior disorders, disorders of speech or language development, and learning disabilities. MNRI is based on techniques called “repatterning” or remodulation, meaning re-education, recoding the reflex nerve pathways specific for dynamic and postural reflex schemes. Objectives: Repatterning activates the extra pyramidal nervous system responsible for automatic mechanisms and processes, the extension of links between neurons, the growth of neural nets, myelination, and the creation of new nerve routing. This potential result was tested utilizing urinary measurements of the following neurotransmitters: epinephrine, norepinephrine, dopamine, DOPAC, serotonin, 5-HIAA, glycine, taurine, GABA, glutamate, PEA, and histamine. Methods: Neurological impact of the Masgutova Neurosensorimotor Reflex Method on the magnitude of changes in neurotransmitters was assessed by an external controlled and double-blind method using patients from one of the four diagnosis groups: 1) global developmental disorders;2) cerebral palsy, Traumatic Brain Injury (TBI), Acute Brain Injury (ABI), and seizures;3) ADD/ADHD;and 4) anxiety disorders. Results: The post-MNRI results in participants show a tendency for regulation of the above neurotransmitters resulting in their calming down, decrease of hypervigilance, stress resilience increase, improvements in behavioral and emotional regulation, positive emotions, and cognitive processes control. Conclusion: The application of the Masgutova Neurosensorimotor Reflex Method as a therapy modality offers a novelty paradigm for the treatment using neuro- and immune-modulation technologies presenting a non-pharmaceutical approach, based on use of neurosensorimotor reflex circuit concept.