Early infantile form of Krabbe disease: a case report

A 7-month-old female child, born to 2nd degree consanguineous marriage brought with complaints of gross developmental delay. Her examination revealed spasticity in all 4 limbs with brisk deep tendon reflexes with intact primitive reflexes and exaggerated startle reflex. Her MRI brain showed demyelination signs in bilateral thalami, dentate hila, and thickened optic chaisma. Age of presentation, clinico-radiological findings were suggestive of early infantile form of Krabbe disease.

Disinhibition of Primitive Reflexes in Attention Deficit and Hyperactivity Disorder: Insight Into Specific Mechanisms in Girls and Boys

Objective: Cognitive and motor disintegration and other functional disturbances in various neuropsychiatric disorders may be related to inhibitory deficits that may manifest as a persistence or re-expression of primitive reflexes and few recent data suggest that these deficits may occur in Attention Deficit and Hyperactivity Disorder (ADHD).Methods: We have tested a hypothesis to which extent ADHD symptoms and balance deficits are related to persisting primitive reflexes, such as Asymmetric Tonic Neck Reflex (ATNR) and Symmetric Tonic Neck Reflex (STNR) in 80 medication-naïve children with ADHD (40 boys and 40 girls) in the school age (8–11 years) and compared these data with a control group of 60 children (30 boys and 30 girls).Results: These data show new finding that ADHD symptoms and balance deficits are strongly and specifically associated with persistent ATNR in girls and STNR in boys.Conclusions: These results provide first evidence in medical literature that ADHD in girls and boys is specifically related to distinguished neurological developmental mechanisms related to disinhibition of primitive reflexes.

Primitive Reflexes and Dementia in Adults With Down Syndrome

ABSTRACTObjective:To determine whether primitive reflexes serve as an indicator of dementia in adults with Down syndrome (DS), we collected neurologic examination data, cognitive and behavioral assessments, and clinical consensus diagnoses of dementia from 92 adults with DS.Methods:In a cross-sectional, observational study of a regional cohort, chi-square and Fisher’s exact tests examined individual reflexes across diagnostic group (No, Possible, or Probable Dementia). In 64 participants with all 8 reflexes assessed, the number of primitive reflexes was assessed as a predictor of diagnosis using age-controlled multinomial logistic regression and of performance on clinical assessments (Brief Praxis Test [BPT], Severe Impairment Battery [SIB], and the Dementia Questionnaire for People with Learning Disabilities [DLD] using age-adjusted linear regression.Results:Primitive palmomental, grasp, snout, and suck reflexes were more frequent in individuals with probable dementia, but all participants showed at least one primitive reflex. Multiple primitive reflexes in combination served as a better indicator of dementia, with each additional abnormal reflex tripling probability of Probable Dementia group membership controlling for age. Abnormal reflex count was not associated with direct assessment of cognition and praxis (SIB and BPT) but associated with informant ratings of cognitive and behavioral functioning (DLD).Conclusions:The presence of multiple reflexes serves as an indicator of dementia status in DS as a supplement to direct assessment of cognition and praxis. The reflex examination may serve as a tool in the multimethod evaluation for dementia in DS, as it appears unaffected by intellectual disability and language mastery.

Relationship Between Retained Primitive Reflexes and Scholastic Performance

Date Presented Accepted for AOTA INSPIRE 2021 but unable to be presented due to online event limitations. Fifty-three kindergarten and first-grade students were screened to examine the relationship between primitive reflexes and scholastic performance. Overall, 100% of participants had retention of at least one reflex. Results indicated statistically significant relationships between reflexes and areas of academic performance. Further research is warranted to understand why reflexes are not being integrated and how school-based OTs ought to use these findings. Primary Author and Speaker: Diana Feldhacker Additional Authors and Speakers: Reilly Cosgrove, Benjamin Feiten, Kayleigh Schmidt, and Marissa Stewart

COMPARISON BETWEEN KINESITHERAPY, MAGNETIC FIELD AND THEIR COMBINATION FOR CEREBRAL MOTOR DISORDERS IN EARLY CHILDHOOD

Introduction:- There are no comparative studies between kinesitherapy, magnetic field, and their combination for cerebral motor disorders in early childhood. There is a consensus on the short-term but not on the long-term efficiency of magnetotherapy. There is a consensus on kinesitherapy but not on its optimal frequency. Aim: The first purpose of the study is to compare the short and long-term effects of kinesitherapy, magnetic field, and their combination for cerebral motor disorders in early childhood. The second purpose was to determine the optimal frequency of kinesitherapy. Material and methods:- Seventy-four children (age 6.91 ± 4.78 m corrected age 6.40 ± 5.08 m) with cerebral motor disorders participated in the study. The followed-up periods were two weeks and six months. Four of the groups were physiotherapeutic. One group was the control. The control group, consisting of 15 children, received once-daily placebo magnetic therapy for two weeks. The magnetotherapy group, including 14 children, received once-daily magnetotherapy for two weeks. The kinesitherapy group consisted of 18 children. They received once-daily kinesitherapy. The group with kinesitherapy + placebo magnetic therapy included 15 children. They received once-daily placebo magnetic therapy and once-daily kinesitherapy for two weeks. The combined group (kinesitherapy with magnetotherapy) consisted of 15 children. They received once-daily magnetic therapy and kinesitherapy for two weeks. The groups with kinesitherapy received instructions to perform it as often as possible at home. The following factors were registered and analyzed: pathological and primitive reflexes, kinesiology tests, cranial ultrasound, and frequency of kinesitherapy. Results:- At the beginning of the follow-up, there was no difference between the five groups regarding all factors (P>0.05). The combined group with kinesitherapy and magnetic field showed the best results at the end of the second week and the sixth month (P<0.05). The group with kinesitherapy and placebo magnetic therapy showed the second-best results (P<0.05). The results of the kinesitherapy group were worst than the previous groups but better than the control group (P<0.05). At a frequency of kinesitherapy twice daily, the binary index of kinesiology tests was 0.102, primitive reflexes - 0.308, and cranial ultrasound - 0.487. At a frequency of kinesitherapy three times daily, the binary index of kinesiology tests was 0.833, primitive reflexes - 0.955, and cranial ultrasound - 0.651. Conclusion:- Cranial ultrasound revealed relatively stationary morphological changes. However, the developing nervous system in cerebral motor disorders at early childhood showed significant positive dynamics and plasticity, verified by kinesiology tests, primitive and pathological reflexes. The best results showed the combined group with kinesitherapy and magnetic field. The effects of kinesitherapy and magnetic field upgraded over each other. Twice daily frequency of kinesitherapy achieved insignificant effectiveness, while three times daily - significant. The recommendation for cerebral motor disorders in early childhood to perform kinesitherapy at least three times daily is very important.

Primitive Reflex Activity in Relation to Motor Skills in Healthy Preschool Children

Psychomotor development in the first year of life is possible due to activity and then integration of primitive (neonatal) reflexes. The presence of active primitive reflexes (APRs) in preschool and school-aged children indicates neuromotor immaturity. Studies show dependencies between the preserved activity of primary reflexes and developmental problems such as learning difficulties (problems with reading, writing, reduced mathematics skills, and dyslexia), difficulties with coordination, and attention deficit. The primary purpose of this study is to present the activity of three tonic reflexes in a sample of 112 Polish children aged 4–6 in relation to their motor skills. The children were examined for the presence of the asymmetric tonic neck reflex (ATNR), symmetric tonic neck reflex (STNR), and tonic labyrinthine reflex (TLR). Motor performance was examined with the MOT 4–6. Statistical analysis shows an inverse correlation between the score in the test of reflexes and motor efficiency (MOT 4–6) at p < 0.05 (−0.33). Children with increased reflex activity presented a lower level of motor efficiency. The multiple regression model showed that with the older age of the child and the decrease in the level of reflex activity, the motor skills of children improve. Thus, there is a need for early screening of primitive reflexes in children. Properly selected exercises and therapeutic activities aimed at integrating APRs in children with developmental difficulties can improve their motor skills, perceptual abilities, and emotional behavior.

SIX-MONTH FOLLOW-UP OF THE EFFECT OF A MAGNETIC FIELD ON CEREBRAL MOTOR DISORDERS IN EARLY CHILDHOOD

Introduction:- There is a consensus about the short-term efficacy, but not about the long-term effect of the low-frequency impulse magnetic field in early childhood cerebral motor disorders. There is no consensus about the statistical significance of the two-week and six-month dynamics of the kinesiology tests, cranial ultrasound, pathological and primitive reflexes. Objective:- To compare the short-term and long-term effect of the low-frequency impulse magnetic field versus placebo control and compare the statistical significance regarding the two-week and six-month dynamics of the kinesiology tests, cranial ultrasound, pathological and primitive reflexes. Material and Methods:- 29 children (age 8.10 ± 5.98 months) with cerebral motor disorders were followed for 6 months. They were divided into two groups - physiotherapeutic and control. The physiotherapy group (n = 14) received a once-daily low-frequency impulse magnetic field for two weeks at the start of the follow-up. The control group (n = 15) received a once-daily placebo magnetic therapy for two weeks at the start of the follow-up. Kinesiology tests, cranial ultrasound, pathological and primitive reflexes were recorded at the beginning of the follow-up, after two weeks, and after six months. Results:- At the beginning of the follow-up, there was no difference between the two groups regarding all parameters (P>0.05). Both groups showed better results after two weeks versus the start of the follow-up (P<0.05) and after six months versus after two weeks (P<0.05). The physiotherapy group showed better results versus the control group after the second week (P<0.05) and after the sixth month (P<0.05). The two-week and six-month dynamics of the kinesiology tests showed the highest significance (P<0.001), followed by primitive reflexes (P<0.04), followed by pathological reflexes (P<0.05), and finally - the cranial ultrasound (P>0.05), at comparable baseline parameters (P<0.05). Conclusion:- The low-frequency impulse magnetic field showed a significant short-term and long-term therapeutic effect that exceeded the corresponding placebo effects. The statistical significance at the second week and the sixth month of kinesiology tests was the highest, followed by primitive reflexes, and pathological reflexes. The cranial ultrasound did not show significant two-week and six-month dynamics. Despite the relatively stationary morphological changes, verified by cranial ultrasound, the developing nervous system in children aged 8.10 ± 5.98 months showed significant positive dynamics and plasticity for two weeks and six months, verified by kinesiology tests, primitive and pathological reflexes.

SIX-MONTH FOLLOW-UP OF KINESITHERAPY FOR CEREBRAL MOTOR DISORDERS IN EARLY CHILDHOOD

Introduction:- There is a consensus about the positive effect of kinesitherapy in cerebral motor disorders, but not about its recommended frequency. There is no consensus on the statistical significance of predictive factors. Aim:- To compare the effect of kinesitherapy versus control, as well as to compare the statistical significance of the following factors: age, corrected age, weight, gender, pregnancy, number of pregnancies, conception, birth, twins, pathological reflexes, primitive reflexes, kinesiology tests, cranial ultrasound, follow-up and frequency of kinesitherapy. Material and methods:- 27 children (age 8.21 ± 5.49 months) with cerebral motor disorders were followed for six months. They were divided into kinesitherapy group and control group. The control group (n = 15) was followed up in the beginning, at the second week, and at the sixth month. The treatment group (n = 12) was followed up in the same way but received kinesitherapy once daily for two weeks at the beginning of every month. Parents were instructed to perform the same techniques with their children as often as possible at home. The following factors were recorded and analyzed: age, corrected age, weight, gender, pregnancy (normal or pathological), number of pregnancies, conception (normal or in vitro), birth (normal or pathological), twins (yes or no), pathological reflexes, primitive reflexes, kinesiology tests, cranial ultrasound, follow-up (short-term and long-term) and frequency of kinesitherapy. Results:- At the beginning of the follow-up, there was no difference between the two groups regarding all factors (P>0.05). Both groups showed better results after two weeks (P<0.05) and after six months (P<0.05) regarding kinesiology tests, pathological and primitive reflexes. The kinesitherapy group showed better results versus the control group at the end of the second week (P<0.05) and at the end of the sixth month (P<0.05) regarding kinesiology tests, pathological and primitive reflexes. The regression coefficients of the factors decreased in the following sequence: frequency of kinesitherapy (0.787), kinesiology tests (0.412), primitive reflexes (0.352), conception (0.298) , birth (0.282), twins (0.221), corrected age (0.220), age (0.197), pregnancy (0.197), pathological reflexes (0.143), cranial ultrasound (0.127), number of pregnancies (0.0501), gender (0.0306), follow-up (0.00547), and weight (0.0000031). Conclusion:- Kinesitherapy has a significant short-term and long-term effect that exceeds the placebo effect. Significance of the factors decreased in the following order: frequency of kinesitherapy, kinesiology tests, primitive reflexes, conception, birth, pregnancy, corrected age, age, pathological reflexes, cranial ultrasound, pregnancy, gender, follow-up, and weight. The frequency of kinesitherapy is the most important factor, which should be recommended at least three times daily in cerebral motor disorders in early childhood.