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Poster 561 Parent-Child Agreement on Post-Concussive Symptoms following Mild Traumatic Brain Injury
PM&R
examination was done using the ASIA Impairment Scale. His sensation to light touch and pin-prick was intact in upper and lower limbs. His motor strength was 0/5 in the right upper limb throughout; in his left upper limb, his motor strength was 0/5 at C5 and C7 myotomes and 4/5 at C6, C8 and T1 myotomes. In the right lower limb the patient’s strength was 4/5 at L2 and L3 myotomes and 5/5 at L4, L5, and S1 myotomes; in the left lower limb it was 3/ 5 at L2 myotomes and 4/5 at L3, L4, L5 and S1. The patient had intact rectal motor control and sensation. His MRI findings were also atypical for TM. MRI showed involvement of only the gray matter with the lesion extending from C1 to T10. MRI of his brain was negative. Discussion: Acute TM is an inflammatory and idiopathic spinal cord disease diagnosed based on bilateral signs and symptoms of spinal cord injury with a clear sensory level, and workup excluding other possible causes. Our patient’s clinical findings were atypical for his diagnosis in that his sensation was intact and he had more weakness proximally versus distally. His MRI findings were also unusual as he had cord inflammation from C1 to T10 with mostly gray matter involvement. History and imaging however excluded other possible diagnoses. Conclusions: Our patient is a 13-year-old boy who presented with asymmetric proximal more than distal muscle weakness. MRI revealed gray matter involvement of the spinal cord. He was diagnosed with TM based on negative workup of other possible etiologies. Poster 561 Parent-Child Agreement on Post-Concussive Symptoms following Mild Traumatic Brain Injury. Reginald D. Talley, MD (Nationwide Children’s Hospital, Columbus, OH, United States); Christine Hajek, PhD; Karl Klamar; Kristen Robinson, PhD. Disclosures: R. D. Talley, No Disclosures: I Have No Relevant Financial Relationships to Disclose. Objective: To investigate parent-child agreement on postconcussive symptoms (PCS) in children following a mild traumatic brain injury (mTBI), and to determine whether demographic (i.e., age, gender, race, history of special education) and injury-related factors (i.e., loss of consciousness, prior history of concussion, injury mechanism) affect level of agreement. Design: Retrospective chart-review. Setting: Outpatient Multidisciplinary Physical Medicine and Rehabilitation Concussion Clinic Participants: 362 children who presented to the Concussion Clinic following an acute mTBI. Children were 6 to 18 years of age (mean ¼ 13.12 years) at first clinic visit and presented between 1 day and 6 months post-injury (mean ¼ 18.13 days). Interventions: Parents and children completed the PCS Interview (PCS-I), a measure of physiological, emotional, and cognitive symptoms following TBI, at the first clinic visit. Main Outcome Measures: PCS-I item-level correlations between parent and child were assessed using Cohen’s kappa coefficient (k) and total symptom count correlations were assessed using Pearson r. Results or Clinical Course: Item-level correlations between parents and children on the PCS-I were significant and modest to large in magnitude (k ¼ .18 - .67, p < .001). The total symptom
Vol. 6, Iss. 9S, 2014
S381
correlation was significant and large in magnitude (r ¼ .68, p < .001). Demographic and injury-related factors did not significantly affect total symptom correlations. The total symptom correlations were robust and significant across all levels of predictors. Item-level correlations of emotional symptoms (e.g., irritability, anxiety, depression, anhedonia) differed based on demographic and injuryrelated factors, whereas correlations of physiological and cognitive symptoms did not. Conclusions: Parents and children display modest to high agreement when reporting PCS in an outpatient clinic setting. Parent and child ratings of total symptoms are similar, but specific ratings of emotional symptoms may vary based on demographic and injury-related factors. Findings highlight the value of collecting symptom reports from both children and their parents following concussion. Poster 562 Adolescent Diagnosed with Spinal Muscular Atrophy with Respiratory Distress Type 1: A Case Report. Nikolai Khromouchkine (University of Missouri, Kansas City School of Medicine, Kansas City, MO, United States); Matthew P. Mayer, MD. Disclosures: N. Khromouchkine, No Disclosures: I Have No Relevant Financial Relationships to Disclose. Case Description: A 16-year-old diagnosed with Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1) at 15 years of age, who is presently modified-independent in the classroom and active in the community. During childhood, this patient achieved independent ambulation by 3 years of age. Despite tracheostomy and ventilator dependence, language development was essentially normal. Fine motor limitations progressed and by 9 years of age the patient was using dictation software to remain independent in the classroom. Progressive weakness resulted in the loss of ambulation by 13 years of age, and the patient now requires minimal assistance with transfers and a power wheelchair for independent mobility. Setting: Tertiary care pediatric hospital. Results or Clinical Course: This patient’s diagnostic odyssey consisted of years of extensive testing including multiple electromyograms, a liver biopsy, nerve biopsy, two muscle biopsies and multiple genetic panels. At 15 years of age, whole exome genetic testing identified disease-causing compound heterozygous mutations of the IGHMBP2 gene. Discussion: SMARD1 is a rare genetic disease manifested in early infancy primarily by severe diaphragmatic weakness, respiratory distress, and distal neuromuscular weakness due to mutations in the IGHMBP2 gene. Respiratory failure occurs prior to six months of age and few patients survive beyond childhood. This 16-year-old patient represents one of the oldest reported living patients with SMARD1 and has well-preserved independent function. The patient was diagnosed with next-generation genetic testing that was not available at the time of the patient’s birth. Conclusions: With advanced respiratory care, survival beyond childhood is possible for patients with SMARD1. For patients with rare genetic conditions, whole exome testing has the potential to avoid extensive workups involving tests which may be invasive, expensive and delay the speed of diagnosis.
examination was done using the ASIA Impairment Scale. His sensation to light touch and pin-prick was intact in upper and lower limbs. His motor strength was 0/5 in the right upper limb throughout; in his left upper limb, his motor strength was 0/5 at C5 and C7 myotomes and 4/5 at C6, C8 and T1 myotomes. In the right lower limb the patient’s strength was 4/5 at L2 and L3 myotomes and 5/5 at L4, L5, and S1 myotomes; in the left lower limb it was 3/ 5 at L2 myotomes and 4/5 at L3, L4, L5 and S1. The patient had intact rectal motor control and sensation. His MRI findings were also atypical for TM. MRI showed involvement of only the gray matter with the lesion extending from C1 to T10. MRI of his brain was negative. Discussion: Acute TM is an inflammatory and idiopathic spinal cord disease diagnosed based on bilateral signs and symptoms of spinal cord injury with a clear sensory level, and workup excluding other possible causes. Our patient’s clinical findings were atypical for his diagnosis in that his sensation was intact and he had more weakness proximally versus distally. His MRI findings were also unusual as he had cord inflammation from C1 to T10 with mostly gray matter involvement. History and imaging however excluded other possible diagnoses. Conclusions: Our patient is a 13-year-old boy who presented with asymmetric proximal more than distal muscle weakness. MRI revealed gray matter involvement of the spinal cord. He was diagnosed with TM based on negative workup of other possible etiologies. Poster 561 Parent-Child Agreement on Post-Concussive Symptoms following Mild Traumatic Brain Injury. Reginald D. Talley, MD (Nationwide Children’s Hospital, Columbus, OH, United States); Christine Hajek, PhD; Karl Klamar; Kristen Robinson, PhD. Disclosures: R. D. Talley, No Disclosures: I Have No Relevant Financial Relationships to Disclose. Objective: To investigate parent-child agreement on postconcussive symptoms (PCS) in children following a mild traumatic brain injury (mTBI), and to determine whether demographic (i.e., age, gender, race, history of special education) and injury-related factors (i.e., loss of consciousness, prior history of concussion, injury mechanism) affect level of agreement. Design: Retrospective chart-review. Setting: Outpatient Multidisciplinary Physical Medicine and Rehabilitation Concussion Clinic Participants: 362 children who presented to the Concussion Clinic following an acute mTBI. Children were 6 to 18 years of age (mean ¼ 13.12 years) at first clinic visit and presented between 1 day and 6 months post-injury (mean ¼ 18.13 days). Interventions: Parents and children completed the PCS Interview (PCS-I), a measure of physiological, emotional, and cognitive symptoms following TBI, at the first clinic visit. Main Outcome Measures: PCS-I item-level correlations between parent and child were assessed using Cohen’s kappa coefficient (k) and total symptom count correlations were assessed using Pearson r. Results or Clinical Course: Item-level correlations between parents and children on the PCS-I were significant and modest to large in magnitude (k ¼ .18 - .67, p < .001). The total symptom
Vol. 6, Iss. 9S, 2014
S381
correlation was significant and large in magnitude (r ¼ .68, p < .001). Demographic and injury-related factors did not significantly affect total symptom correlations. The total symptom correlations were robust and significant across all levels of predictors. Item-level correlations of emotional symptoms (e.g., irritability, anxiety, depression, anhedonia) differed based on demographic and injuryrelated factors, whereas correlations of physiological and cognitive symptoms did not. Conclusions: Parents and children display modest to high agreement when reporting PCS in an outpatient clinic setting. Parent and child ratings of total symptoms are similar, but specific ratings of emotional symptoms may vary based on demographic and injury-related factors. Findings highlight the value of collecting symptom reports from both children and their parents following concussion. Poster 562 Adolescent Diagnosed with Spinal Muscular Atrophy with Respiratory Distress Type 1: A Case Report. Nikolai Khromouchkine (University of Missouri, Kansas City School of Medicine, Kansas City, MO, United States); Matthew P. Mayer, MD. Disclosures: N. Khromouchkine, No Disclosures: I Have No Relevant Financial Relationships to Disclose. Case Description: A 16-year-old diagnosed with Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1) at 15 years of age, who is presently modified-independent in the classroom and active in the community. During childhood, this patient achieved independent ambulation by 3 years of age. Despite tracheostomy and ventilator dependence, language development was essentially normal. Fine motor limitations progressed and by 9 years of age the patient was using dictation software to remain independent in the classroom. Progressive weakness resulted in the loss of ambulation by 13 years of age, and the patient now requires minimal assistance with transfers and a power wheelchair for independent mobility. Setting: Tertiary care pediatric hospital. Results or Clinical Course: This patient’s diagnostic odyssey consisted of years of extensive testing including multiple electromyograms, a liver biopsy, nerve biopsy, two muscle biopsies and multiple genetic panels. At 15 years of age, whole exome genetic testing identified disease-causing compound heterozygous mutations of the IGHMBP2 gene. Discussion: SMARD1 is a rare genetic disease manifested in early infancy primarily by severe diaphragmatic weakness, respiratory distress, and distal neuromuscular weakness due to mutations in the IGHMBP2 gene. Respiratory failure occurs prior to six months of age and few patients survive beyond childhood. This 16-year-old patient represents one of the oldest reported living patients with SMARD1 and has well-preserved independent function. The patient was diagnosed with next-generation genetic testing that was not available at the time of the patient’s birth. Conclusions: With advanced respiratory care, survival beyond childhood is possible for patients with SMARD1. For patients with rare genetic conditions, whole exome testing has the potential to avoid extensive workups involving tests which may be invasive, expensive and delay the speed of diagnosis.