The neuroimaging spectrum of SLC13A5 related developmental and epileptic encephalopathy.

BACKGROUND: SLC13A5 related developmental and epileptic encephalopathy (DEE) is an autosomal recessive condition characterized by neonatal seizures, fever sensitivity, status epilepticus, developmental delay and tooth anomalies. The neuroimaging spectrum of SLC13A5 related DEE is not fully known. We present a case of SLC13A5 related DEE with distinct neuroimaging findings and review the neuroimaging findings of all published cases of SLC13A5 related DEE. METHODS: A retrospective case review and focused review of the literature was completed. RESULTS: A 16-month-old male with a clinical phenotype consistent with SLC13A5 related DEE and a previously reported pathogenic variant in SLC13A5, c.655G>A, p.Gly219Arg and a novel likely pathogenic variant in SLC13A5, c.202C>T, p.Pro68Ser was identified. MRI at day 5 of life revealed wide spread punctate white matter lesions (PWMLs) affecting the subcortical white matter, periventricular white matter, splenium of the corpus callosum, posterior limb of the internal capsule, corticospinal tracts, midbrain, pons and medulla, mimicking a metabolic/infectious etiology. MRI at one month showed atrophy and evolution of white matter necrosis. One hundred and five cases of SLC13A5 related DEE were identified. Initial MRI was completed in 62 cases (59%). MRI was normal in 41 cases (66%) and abnormal in 21 (34%). White matter abnormalities were most common (n=15, 71%); PWMLs occurred in 8 cases (38%). CONCLUSION: Neuroimaging abnormalities may exist in a third of SLC13A5 related DEE cases. White matter abnormalities such as PWMLs appear most common. It remains unknown why some are susceptible to these lesions and how they affect long-term neurodevelopmental outcomes in SLC13A5 related DEE.

Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report.

BACKGROUND AND OBJECTIVES: To date, all reports of pathogenic variants affecting the GTPase domain of the DNM1 gene have a clinically severe neurodevelopmental phenotype, including severe delays or intractable epilepsy. We describe a case with moderate developmental delays and self-resolved epilepsy. METHODS: The patient was followed by our neurology and genetics teams. After clinical examination and EEG to characterize the patient's presentation, we conducted etiologic workup including brain MRI, chromosomal microarray, genetic and metabolic investigations, and nerve conduction studies. Subsequently, we arranged an Intellectual Disability Plus Trio Panel. RESULTS: Our patient presented with seizures at 2 days old, requiring phenobarbital. She also had hypotonia, mild dysmorphic features, and mild ataxia. Although initial workup returned unremarkable, the trio gene panel identified a de novo heterozygous pathogenic missense variant in the DNM1 GTPase domain. Now 4 years old, she has been seizure-free for 3 years without ongoing treatment and has nonsevere developmental delays (e.g., ambulates independently and speaks 2-word phrases). DISCUSSION: Our case confirms that not all individuals with DNM1 pathogenic variants, even affecting the GTPase domain, will present with intractable epilepsy or severe delays. Expanding the known clinical spectrum of dynamin-related neurodevelopmental disorder is crucial for patient prognostication and counseling.

Effectiveness of online versus live multi-family psychoeducation group therapy for children and adolescents with mood or anxiety disorders: a pilot study.

OBJECTIVE: [1] To highlight the effectiveness of multi-family psychoeducation group therapy (MFPGT) in children with mood or anxiety disorders; [2] to measure change in knowledge and awareness of mood and anxiety disorders in families and children; and [3] to compare the relative effectiveness of online compared to live MFPGT. METHOD: Participants included families of children (12 years or younger) referred with a mood or anxiety disorder to the Division of Child and Adolescent Psychiatry at Queen's University (n=16) who were on a waitlist to see a psychiatrist. Change was measured through questionnaires for all parents before and after the program. Using SPSS v22, comparisons between the online (n=6) and live (n=10) groups were made using the Mann-Whitney U test and within group comparisons were made using Wilcoxon signed-rank test. RESULTS: The online and live education groups showed similar overall improvements in knowledge acquisition and expressed emotion in participating families. However, statistical significance must be interpreted with caution due to the small sample size. CONCLUSIONS: Online MFPGT may be an effective way to increase knowledge, provide resources and support and build on skills thus giving individuals more control and confidence when dealing with a mood or anxiety disorder while on a waitlist. MFPGT showed equal efficacy in live and online groups, indicating that the online program has the potential to be a more convenient and accessible program for families. More research is needed with a greater sample size.

Achieving the daily step goal of 10,000 steps: the experience of a Canadian family attached to pedometers.

BACKGROUND: Health experts recommend daily step goals of 10,000 steps for adults and 12,000 steps for youths to achieve a healthy active living. This article reports the findings of a Canadian family project to investigate whether the recommended daily step goals are achievable in a real life setting, and suggests ways to increase the daily steps to meet the goal. The family project also provides an example to encourage more Canadians to conduct family projects on healthy living. METHODS: This is a pilot feasibility study. A Canadian family was recruited for the study, with 4 volunteers (father, mother, son and daughter). Each volunteer was asked to wear a pedometer and to record daily steps for three time periods of each day during a 2-month period. Both minimal routine steps, and additional steps from special non-routine activities, were recorded at work, school and home. RESULTS: The mean number of daily steps from routine minimal daily activities for the family was 6685 steps in a day (16 hr, approx 400 steps/hr). There was thus a mean deficit of 4315 steps per day, or approximately 30,000 steps per week, from the goal (10,000 steps for adults; 12,000 steps for youths). Special activities that were found to effectively increase the steps above the routine level include: walking at brisk pace, grocery shopping, window shopping in a mall, going to an entertainment centre, and attending parties (such as to celebrate the holiday season and birthdays). DISCUSSION: To increase our daily steps to meet the daily step goal, a new culture is recommended: "get off the chair". By definition, sitting on a chair precludes the opportunity to walk. We encourage people to get off the chair, to go shopping, and to go partying, as a practical and fun way to increase the daily steps. This paper is a call for increased physical activity to meet the daily step goal.

Daily step goal of 10,000 steps: a literature review.

BACKGROUND: This review looks at ways to increase physical activity, by walking and other sports and home activities, to reach the daily 10,000 steps goal. It also looks at a number of issues associated with achieving the daily step goal, such as considerations in walking, step counting and physical activity. METHODS: The review is based on MEDLINE (1982-2006) and Google searches using keywords "pedometer", "daily step goal", "physical activity", "exercise". RESULTS: Research has suggested a daily 10,000 step goal for maintaining a desirable level of physical activity for health. However, this is not normally achievable through routine daily activities. For many, there is a daily deficit of approximately 4000 steps (most from 3000 to 6000 steps), which must be gained from other more rigorous activities. This paper provides information based on the Compendium of Physical Activities, to help people to choose their physical activities to supplement their daily steps, through both sports activities and home activities. It thus helps people to better achieve the goals of Canada's Physical Activity Guide. There are issues to consider in counting steps. A pedometer is not an exact method to measure energy expenditure. Focusing on counting steps may lead to an obsessive attitude toward exercise. Excessive walking and physical activity may lead to certain health problems. DISCUSSION: Walking is a practical and fun way to change our sedentary life style and to improve the health of the nation. When there is a deficit in daily steps, both sports and home activities can be used to supplement the daily steps to reach the daily step goal. The user-friendly table provided in this paper helps people to identify the sports and home activities, and estimate the durations needed, to meet the daily step goal.