The Optimal Ileal Pouch: Physiologic Parameters Significantly Correlate with Overall Pouch Function.

BACKGROUND: Ileal pouch function is affected by several patient factors and pouch physiology. The significance of pouch physiology on optimal pouch function has not been well characterized. The purpose of this study was to examine specific post-ileal pouch anal anastomosis (IPAA) physiologic parameters to determine impact on pouch function and quality of life. METHODS: Patients undergoing proctocolectomy with IPAA for ulcerative colitis were examined. Post-IPAA compliance, pouch anal pressure gradient (PAPG), and function were assessed 6-8 months postoperatively. Compliance was calculated as change in volume divided by change in pressure. PAPG was calculated as the difference between anal pressure and intra-pouch pressure at a fixed volume. Pouch function evaluation included stool frequency and episodes of incontinence. Quality of life was evaluated using the Rockwood Fecal Incontinence Quality of Life Scale. RESULTS: A total of 125 patients were investigated. Post-IPAA resting anal pressure averaged 58.1 ± 15 mmHg. Mean volume and intra-pouch pressure at evacuation were 245 mL and 33.9 mmHg, respectively. Compliance averaged 11.2 mmHg/mL with a mean PAPG of - 29.3 mmHg. Compliance and PAPG correlated with 24-h (p = 0.003, p = 0.004) and nighttime stool frequency (p = 0.04, p = 0.03). Daytime continence was impacted by compliance (p = 0.04), PAPG (p = 0.02), and resting anal pressure (p = 0.02). CONCLUSION: This unique evaluation reveals a significant correlation between IPAA physiologic properties and function. Optimal function and quality of life depend in part on maintaining optimal pouch compliance and pressure differentials between the pouch and anal canal, defined by the pouch anal pressure gradient.

Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.

OBJECTIVE: To describe a founder mutation effect and the clinical phenotype of homozygous FRRS1L c.737_739delGAG (p.Gly246del) variant in 15 children of Puerto Rican (Boricua) ancestry presenting with early infantile epileptic encephalopathy (EIEE-37) with prominent movement disorder. BACKGROUND: EIEE-37 is caused by biallelic loss of function variants in the FRRS1L gene, which is critical for AMPA-receptor function, resulting in intractable epilepsy and dyskinesia. METHODS: A retrospective, multicenter chart review of patients sharing the same homozygous FRRS1L (p.Gly246del) pathogenic variant identified by clinical genetic testing. Clinical information was collected regarding neurodevelopmental outcomes, neuroimaging, electrographic features and clinical response to antiseizure medications. RESULTS: Fifteen patients from 12 different families of Puerto Rican ancestry were homozygous for the FRRS1L (p.Gly246del) pathogenic variant, with ages ranging from 1 to 25 years. The onset of seizures was from 6 to 24 months. All had hypotonia, severe global developmental delay, and most had hyperkinetic involuntary movements. Developmental regression during the first year of life was common (86%). Electroencephalogram showed hypsarrhythmia in 66% (10/15), with many older children evolving into Lennox-Gastaut syndrome. Six patients demonstrated progressive volume loss and/or cerebellar atrophy on brain magnetic resonance imaging (MRI). CONCLUSIONS: We describe the largest cohort to date of patients with epileptic encephalopathy. We estimate that 0.76% of unaffected individuals of Puerto Rican ancestry carry this pathogenic variant due to a founder effect. Children homozygous for the FRRS1L (p.Gly246del) Boricua variant exhibit a very homogenous phenotype of early developmental regression and epilepsy, starting with infantile spasms and evolving into Lennox-Gastaut syndrome with hyperkinetic movement disorder.

Safety and Efficacy of Brivaracetam in Pediatric Refractory Epilepsy: A Single-Center Clinical Experience.

Brivaracetam is a new antiepileptic drug with limited data in children. The objective of this study was to assess the efficacy/tolerability of brivaracetam. This is a retrospective chart review of children/adolescents with refractory epilepsy treated with brivaracetam from 2016 to 2018. The primary outcome was seizure reduction (decrease in seizure frequency >50%). Twenty-three patients were identified. Mean age at initiation was 12.5 years. Fourteen were females. Epilepsy was focal in 11, generalized in 6, and mixed in 3. Average dose was 3.9 mg/kg/d. The mean duration of treatment was 8.2 months. Eight had greater than 50% decrease in seizure frequency, of which 7 had focal epilepsy, and 1 had Lennox-Gastaut/mixed epilepsy. Two had drowsiness and 3 behavioral complaints. One experienced tingling and dizziness. Our retrospective review suggests that brivaracetam is an effective therapy for refractory focal epilepsy in children older than 4 years of age.

Opioid-induced toxic leukoencephalopathy: A case report and review of the literature.

IMPORTANCE: Reports of toxic leukoencephalopathy (TLE) due to opioids have been extensively documented within the adult literature. There is a paucity of literature with respect to the incidence, complications, and outcomes of TLE in the pediatric population. OBJECTIVE: To describe a rare complication of opioid ingestion in the pediatric population and serve as the first large review of published cases of opioid-induced leukoencephalopathy. Thirteen case reports with varying treatments are herein reviewed in addition to our own case. The range of treatment modalities, morbidity and mortality are broad and outcomes secondary to supportive care versus neurosurgical intervention is explored. EVIDENCE REVIEW: All cases of pediatric opioid-induced toxic leukoencephalopathy published on pubmed and google scholar were included in this review. FINDINGS: We report the case of a 4-year old male surgically treated for acute oxycodone-induced TLE who initially presented with Glascow Coma Scale of 4 and a comatose state for weeks. Over the next several months he recovered with spasticity of all extremities, oral aversion, substantial vision loss, and the ability to speak in short sentences. In addition, we found thirteen other reported cases of opioid-induced leukoencephalopathy reported in the literature. The treatment approaches described range from supportive care alone, to invasive neurosurgical interventions including placement of extraventricular drains, removal of hemorrhagic tissue, and craniectomy. The outcomes of patients with opioid-induced leukoencephalopathy is also variable. Reports demonstrate a range of outcomes that include patients who died to those with no residual neurologic deficits. CONCLUSIONS: This review of reported pediatric cases of opioid-induced leukoencephalopathy highlights the importance of early neurosurgical intervention for prevention of devastating outcomes.

Intravenous levetiracetam in children with epilepsy.

Intravenous levetiracetam recently became available for use in patients aged >16 years. There are few data about its safety and efficacy in children. We retrospectively analyzed data from children treated with intravenous levetiracetam. Ten patients (6 female, 4 male), aged 3 weeks to 19 years, were treated with intravenous levetiracetam at a mean dose of 50.5 mg/kg/day for a mean duration of 4.9 days. Four patients received intravenous levetiracetam for acute repetitive seizures/status epilepticus, and three as replacement for oral levetiracetam because administration of oral levetiracetam was temporarily infeasible. One patient each received intravenous levetiracetam for seizure prophylaxis during brain biopsy, as maintenance treatment after acute seizures, and as substitute for sodium valproate. Three of four patients with acute repetitive seizures/status epilepticus became seizure-free; the fourth patient had a partial reduction in seizure frequency. All three patients who received intravenous levetiracetam as substitute for oral levetiracetam tolerated the switch well. The other three patients were seizure-free on intravenous levetiracetam. No serious adverse effects were observed, and all patients completed treatment with intravenous levetiracetam for the intended period. Intravenous levetiracetam may be effective in various clinical situations requiring intravenous administration of an antiepileptic drug.

Ocular compression pressure during EEG for the study of increased vagal reactivity.

Ocular compression (OC) is a maneuver performed during EEG to demonstrate increased vagal reactivity in children with suspected syncope including breath-holding spells. We examined the relationship between the simulated OC pressure exerted by different physicians and the cardiac slowing responses that they had historically obtained as per EEG records. Simulated OC was performed by each physician using a sphygmomanometer. EEGs were reviewed for the rate of positive cardiac slowing per physician. Among three physicians who performed a total of 73 OC, the mean +/- SD of applied pressure were 29.0 +/- 2.4, 60.7 +/- 3.5 and 42.4 +/- 2.5 mmHg, respectively. There was good intra-physician consistency for the OC pressures exerted. The mean pressure exerted was significantly different between physicians (p < 0.001, ANOVA). The positive response rate for cardiac slowing among these physicians was 11/37 (29.7%), 10/21 (47.6%) and 8/15 (53.3%) respectively. The difference in positive OC responses between physicians was not significant (p = 0.127, chi-square). Higher OC pressures did not translate into more positive responses. A pressure of 30 mmHg is as good as 60 mmHg in demonstrating cardiac slowing during OC.

Levetiracetam monotherapy in children with epilepsy.

Although levetiracetam has shown efficacy in children with epilepsy, when used as adjunctive therapy, limited data are available regarding its use as monotherapy. The objective of this study is to evaluate the efficacy and tolerability of levetiracetam monotherapy in a cohort of pediatric patients with epilepsy. A retrospective analysis of pediatric epilepsy patients receiving levetiracetam at a single institution was performed over a 3-year period. Eighty-one patients were identified, 18 of whom received levetiracetam as monotherapy (mean age, 9.6 years). Epilepsy types were partial in 14 and generalized in 4. Conversion to levetiracetam monotherapy occurred in 16 patients due to lack of efficacy or adverse events, and 2 patients were initially started on monotherapy. Dose range of levetiracetam was 14-60 mg/kg, and duration of therapy ranged from 2-24 months. Eleven patients became seizure free on levetiracetam, one had at least 50% reduction in seizures, and six others had no change in seizure frequency. Adverse events included worsening of behavior, irritability, and possible cognitive changes, seen in 4 patients. Levetiracetam was discontinued in seven patients overall. Levetiracetam monotherapy appeared to be effective and well tolerated in this group of children with epilepsy and warrants further investigation in a well-controlled, prospective study.

Enterotomy and mortality rates of laparoscopic incisional and ventral hernia repair: a review of the literature.

Laparoscopic incisional and ventral hernia (LVIH) repair is becoming more popular throughout the world. Although individual series have presented their own information, few data have been collected to identify the risk of the most serious complication, enterotomy. A literature review has identified this to occur in 1.78% of patients who undergo this procedure. Large bowel injury represents only 8.3% of these injuries. Eighty-two percent of the time, these injuries will be recognized and repaired. In the majority of published series in which this occurred, the hernia repair was completed with a laparoscopically placed prosthesis, as only 43% were converted to the open procedure. Complications related to this approach are infrequent. The mortality rate of this operation was noted to be 0.05%. However, if an enterotomy occurred, it increased to 2.8%. A recognized enterotomy was associated with a mortality rate of 1.7%, but an unrecognized enterotomy had a rate of 7.7%. Careful technique and close inspection of the intestine at the completion of the adhesiolysis and the herniorrhaphy is recommended. If the hernia repair proceeds as planned following repair of enterotomy, continuation of antibiotics and the placement of an antimicrobial impregnated prosthesis are recommended. More study is necessary before firm recommendations can be made, as the majority of these events are most likely unreported. Safety concerns may require postponement of the hernia repair if an enterotomy occurs.

Planning for a Violent Intruder Event: The School Nurse's Role.

School shootings occur too frequently and often with devastating results. The key to prevention and mitigation of these events is to have a plan that is simple, up-to-date, disseminated, and practiced. This article discusses the steps that school nurses can take to work with school administration to prepare themselves, their staff, and their students.

Risk Factors for 30-Day Hospital Re-Admission with an Infectious Complication after Lower-Extremity Vascular Procedures.

BACKGROUND: Lowering the 30-d re-admission rate after vascular surgery offers the potential to improve healthcare quality. This study evaluated re-admission associated with infections after open and endovascular lower extremity (LE) procedures for peripheral artery disease (PAD). METHODS: Patients admitted for elective LE procedures for PAD were selected from the Cerner Health Facts® database. Chi-square analysis evaluated the characteristics of the index admission associated with infection at 30-d re-admission. Multivariable logistic models were created to examine the association of patient and procedural characteristics with infections at re-admission. The microbiology data available at the time of re-admission were evaluated also. RESULTS: A total of 7,089 patients underwent elective LE procedures, of whom 770 (10.9%) were re-admitted within 30 d. A total of 289 (37.5%) had a diagnosis of infection during the re-admission. These infections included surgical site (14.8%), cellulitis (13.6%), sepsis (8.8%), urinary tract (4.9%), and pneumonia (4.9%). Index stay factors associated with infection at re-admission were fluid and electrolyte disorders, kidney disease, diabetes, previous infection, and chronic anemia. Laboratory results associated with an infection during re-admission were post-operative hemoglobin <8 g/dL, blood urea nitrogen >20 mg/dL, platelet counts >400 × 103/mcL, glucose >180 mg/dL, and white blood cell count >11.0 × 103/mcL. Adjusted models demonstrated longer stay, chronic anemia, previous infection, treatment at a teaching hospital, and hemoglobin <8 g/dL to be risk factors for re-admission with infection. Infective organisms isolated during the re-admission stay included Staphylococcus, Enterococcus, Escherichia, Pseudomonas, Proteus, and Klebsiella. CONCLUSIONS: Infectious complications were associated with more than one-third of all re-admissions after LE procedures. Predictors of re-admission within 30 d with an infectious complication were longer stay, greater co-morbidity burden, hospitalization in teaching facilities, hemoglobin <8 g/dL, and an infection during the index stay. Microbiology examination at re-admission demonstrated gram-negative bacteria in more than 40% of infections. Further evaluation of high-risk vascular patients prior to discharge and consideration of antibiotic administration for gram-negative organisms at the time of re-admission may improve outcomes.

Anterior encephalocele associated with subependymal nodular heterotopia, cortical dysplasia and epilepsy: case report and review of the literature.

The presence of subependymal nodular heterotopia and cortical dysgenesis has been infrequently reported in patients with encephalocele. The majority of these patients were found to have posterior encephaloceles. We report a case of a Hispanic female with a frontoethmoidal encephalocele who developed epilepsy at 15 years of age. Magnetic resonance imaging of the brain demonstrated left subependymal nodular heterotopia, partial agenesis of the corpus callosum and left fronto-temporal cortical dysplasia with polymicrogyria. This case illustrates the association of anterior encephalocele with subependymal nodular heterotopia, cortical dysplasia and epilepsy. It underscores the importance of screening for intracranial abnormalities in patients with anterior encephalocele.

Usefulness of ocular compression during electroencephalography in distinguishing breath-holding spells and syncope from epileptic seizures.

Episodes of syncope or breath-holding spells are often misdiagnosed as epileptic events. The purpose of this study was to assess the usefulness of an electroencephalogram (EEG) with ocular compression to distinguish breath-holding spells and syncope from epileptic seizures. A retrospective analysis was performed on the EEG records of all children on whom ocular compression was performed from 2000 to 2003. Data from 116 patients with a clinical diagnosis consistent with either syncope or breath-holding spells were compared with a group of 46 patients with epilepsy. The RR interval during ocular compression was significantly higher in syncope patients compared with patients with epilepsy (P < .005). Using 2 seconds of asystole as the cutoff, the sensitivity of ocular compression was 26%, with 100% specificity. The change in RR interval from baseline to ocular compression also distinguished patients with breath-holding spells and syncope from patients with epilepsy. Even a small increase of 0.5 seconds in the RR interval demonstrated a sensitivity of 46%, with a specificity of 98%. Ocular compression performed during an EEG is useful in distinguishing patients with breath-holding spells and syncope from those with epileptic seizures. A requirement of a 2-second period of asystole with ocular compression excludes many patients. Our data indicate that an RR interval increase of 0.5 seconds over baseline identifies additional patients with increased vagal tone. Prompt and accurate diagnosis of the etiology of loss of consciousness might preclude the need for further extensive and expensive evaluation and reduce patient and parental distress.

Oxcarbazepine therapy in very young children: a single-center clinical experience.

Oxcarbazepine is indicated for use as monotherapy or adjunctive therapy in the treatment of partial seizures in adults and children >or=4 years of age. The purpose of this retrospective chart review was to assess efficacy and tolerability of oxcarbazepine in children

Oxcarbazepine monotherapy in children and adolescents: a single-center clinical experience.

This single-center analysis evaluated the efficacy of oxcarbazepine monotherapy in children and adolescents. A retrospective chart review identified 60 patients (male=33, female=27) aged 6 months to 17.8 years (mean age 8.2+/-4.7 years) with partial onset epilepsy receiving oxcarbazepine monotherapy. The range of oxcarbazepine dose was 6-71 mg/kg/day (mean 26.3+/-11.4 mg/kg/day). The duration of therapy ranged from 3 months to 8 years (mean duration 16.7+/-14.3 months). Fifty-one patients (85%) achieved>or=50% reduction in seizure frequency, and 25 of 60 patients (42%) achieved seizure freedom. Ten patients (16.67%) reported adverse events including drowsiness, aggressive behavior, ataxia, dizziness, diplopia, and leg cramps. No hyponatremia or skin rash was observed. Twenty-four patients were switched from carbamazepine to oxcarbazepine monotherapy. In these patients carbamazepine was discontinued because of incidence of adverse events, poor seizure control, or both. Seventy-nine percent of patients switched from carbamazepine to oxcarbazepine monotherapy had >or=50% reduction in seizure frequency, and 37.5% became seizure-free. These findings suggest that oxcarbazepine monotherapy is effective and well tolerated in children and adolescents with partial epilepsy.

Efficacy and safety of zonisamide monotherapy in a cohort of children with epilepsy.

The aim of this study was to evaluate the efficacy and safety of zonisamide monotherapy in a cohort of children and adolescents with various types of epilepsy. Retrospective review of charts of our institution from 2001 through 2004 identified 69 children (19 males and 50 females, mean age 13.2 years) with epilepsy on zonisamide monotherapy. Seizure count and side effect profile were maintained during therapy. Sixty-one percent had idiopathic generalized epilepsy, 4% symptomatic generalized epilepsy, and 35% partial-onset epilepsy. Zonisamide was the first-line and second-line monotherapy for 32% and 68% of patients, respectively. The mean duration of follow-up on treatment was 22 months (range 3-48 months). The overall efficacy of zonisamide was 75.4% (> or = 50% seizure frequency reduction: good responders). Sixty-seven percent of good responders became seizure-free. Seventy-nine percent of patients with partial epilepsy and 71% with generalized epilepsy were good responders, of whom 79% and 63% were free of seizure, respectively. Eighteen (26%) patients developed side effects: weight loss (9), cognitive impairment (3), sleepiness (3), dizziness (2), and decreased appetite (1). In seven patients (10%), zonisamide had to be discontinued: four due to side effects and three because of poor seizure control. Zonisamide was demonstrated to be effective as monotherapy in children with epilepsy.

Epileptic seizures in the pediatric intensive care unit setting.

PURPOSE: The clinical features of seizures occurring in the pediatric intensive care unit (PICU) setting are not well characterized. Adult ICU studies reveal an incidence of seizures ranging from 0.8% to 3.3%, with vascular, metabolic abnormalities, and drug withdrawal being the most common etiologies. The objective of this study is to investigate the clinical characteristics of seizures in children admitted to the PICU at our institution. METHODS: We performed a retrospective review of all patients with diagnoses of seizures or epilepsy, admitted to our PICU from 2002 to 2004. Of 6,820 admissions, 32 patients, aged one month to 19 years had seizures in the PICU. RESULTS: The incidence of seizures was 0.5%. Developmental delay or mental retardation was present in 37% of patients. Seizures were generalized in 26 (81%), and focal in 6 (19%); 34% had status epilepticus. The etiology of seizures was epilepsy in 11 (34%). Seizures that do not meet the diagnosis of epilepsy were diagnosed in 21 (66%) including post-craniotomy in five (23%), febrile seizures in three (14%), encephalitis in three (14%), and hydrocephalus in three (14%). Thirty-one patients (97%) were initially treated with either lorazepam or fosphenytoin. CONCLUSIONS: Seizures in PICU have different clinical characteristics from those in adults. Recognizing the common seizure etiologies in PICU is likely to lead to a more prompt and effective treatment. Antiepileptic drug prophylaxis may be useful in post-craniotomy patients. A neurological consultation and EEG evaluation are of the utmost importance to help rule in or out epileptic disorders in the PICU.

A Patient With Atypical Multiple Sulfatase Deficiency.

BACKGROUND: Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder characterized by the absence of several sulfatases and resulting from mutations in the gene encoding the human C (alpha)-formylglycine-generating enzyme. There have been a variety of biochemical and clinical presentations reported in this disorder. PATIENT DESCRIPTION: We present a 4-year-old girl with clinical findings of microcephaly, spondylolisthesis and neurological regression without ichthyosis, coarse facies, and organomegaly. RESULTS: The child's magnetic resonance imaging demonstrated confluent white matter abnormalities involving the periventricular and deep cerebral white matter with the U-fibers relatively spared. Biochemical testing showing low arylsulfatase A levels were initially thought to be consistent with a diagnosis of metachromatic leukodystrophy. The diagnosis of multiple sulfatase deficiency was pursued when genetic testing for metachromatic leukodystrophy was negative. CONCLUSION: This child illustrates the clinical heterogeneity of multiple sulfatase deficiency and that this disorder can occur without the classic clinical features.

Use and value of ordering emergency electroencephalograms and videoelectroencephalographic monitoring after business hours in a children's hospital: 1-year experience.

Policies of administration, availability, and utility of ordering emergency electroencephalograms (EEGs) during nonbusiness hours vary widely among different EEG laboratories. In an attempt to explore further the importance of performing such emergency procedures in children, we analyzed the utility of not only emergency EEGs but also emergency longterm bedside EEGs and emergency video-EEGs at our institution in 1 year. The number of EEG studies performed in 1 year at our neurophysiology laboratory was 1821: 1212 routine EEGs, 387 24-hour ambulatory EEGs, 81 video-EEGs, and 141 long-term bedside EEGs. The number of emergency studies during the same period of time was 32 (1.8% of the total studies): 18 emergency EEGs, 8 emergency long-term bedside EEGs, and 6 emergency video-EEGs. The reasons for ordering the 18 emergency EEGs included the evaluation of (1) altered mental status (n=10), (2) paroxysmal movement (including cluster of seizures) (n=6), and (3) prolonged febrile or afebrile seizures prior to being discharged on a weekend (n=2). The eight emergency long-term bedside EEGs were done to evaluate (1) altered mental status (n=6) and (2) frequently occurring paroxysmal events (n=2). Four of the eight emergency long-term bedside EEGs were done after an abnormal emergency EEG. The six emergency video-EEGs were done to evaluate frequently occurring paroxysmal events (n=5) and altered mental status (n=1). Overall, emergency EEGs and emergency video-EEGs were useful in decision making in 30 of 32 (94%) studies. This might be related to the fact that a neurologist approved all of the studies. Appropriate strategies need to be developed to make this essential service available for patient care.

Intrathecal baclofen overdose followed by withdrawal: clinical and EEG features.

Intrathecal baclofen therapy is increasingly used to alleviate medically intractable spasticity in children with cerebral palsy, spinal cord injuries, and generalized dystonia. Complications like overdose or withdrawal can occur and could be the result of pump malfunction (device-related) or refilling and programming mistakes (human errors). This report describes a case, with emphasis on electroencephalographic changes, of a 12-year old male on long-term intrathecal baclofen therapy who had sequential occurrence of both acute inadvertent baclofen overdose followed by withdrawal symptoms. During baclofen intoxication, electroencephalography documented periodic generalized epileptiform discharges, occasionally followed by intermittent electro-decremental responses on a background of diffuse delta slowing (1-2 Hz). During withdrawal, mild generalized slowing during wakefulness was observed along with the appearance of high-amplitude, sharply contoured delta activity resembling frontal intermittent rhythmic delta activity in sleep. To our knowledge, this temporal profile of electroencephalographic features during baclofen intoxication followed by withdrawal has not been described before in pediatric patients. It is important for treating physicians to recognize the evolution of this electroencephalographic pattern in order to avoid misinterpretation of diagnosis and prognosis.

Mitochondrial enzyme dysfunction in autism spectrum disorders; a novel biomarker revealed from buccal swab analysis.

AIM: Mitochondrial function studies in autism spectrum disorders (ASD) have detected skeletal muscle mitochondrial enzyme deficiencies in respiratory complex (RC) activities. As a muscle biopsy is expensive and invasive, we assessed RC-I and RC-IV activities in buccal swabs. METHODS: 92 children with ASD and 68 controls were studied with immunocapture for RC-I and microspectrophotometry for RC-IV. RESULTS: Significant RC activity deficiencies were found in 39 (42%) ASD patients (p < 0.01) and more prevalent in more severe cases. Aberrant RC overactivity was seen in 9 children. RC-I/RC-IV activity ratio was significantly increased in 64% of the entire ASD cohort including 76% of those more severely affected (p < 0.05). CONCLUSION: Buccal swab analysis revealed extensive RC abnormalities in ASD providing a noninvasive biomarker to assess mitochondrial function in ASD patients.