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Rare gene variants confer a high level of penetrance to neurodevelopmental disorders, but their developmental origin and cellular substrates remain poorly understood. To address this limitation, we explored the role of TBX1, a gene encoded in a rare copy number variant, in cell and mouse models. Here, we report that neonatal Tbx1 deficiency contributes to defective peripubertal social behavior and impairs the proliferation of neonatal neural stem/progenitor cells. Moreover, TBX1 transcriptionally regulates genes linked to post-embryonic neurogenesis and neurodevelopmental disorders associated with other rare gene variants. Our data indicate a precise time window and cell type through which the social dimension is altered by a gene encoded in a rare CNV and provide a potential common mechanistic basis for a group of neurodevelopmental disorders.One-Sentence SummaryTbx1, a gene affecting neonatal stem cell proliferation, influences peripubertal social behavior.

Autism spectrum disorder (ASD) is often signaled by atypical cries during infancy. Copy number variants (CNVs) provide genetically identifiable cases of ASD, but how early atypical cries predict a later onset of ASD among CNV carriers is not understood in humans. Genetic mouse models of CNVs have provided a reliable tool to experimentally isolate the impact of CNVs and identify early predictors for later abnormalities in behaviors relevant to ASD. However, many technical issues have confounded the phenotypic characterization of such mouse models, including systematically biased genetic backgrounds and weak or absent behavioral phenotypes. To address these issues, we developed a coisogenic mouse model of human proximal 16p11.2 hemizygous deletion and applied computational approaches to identify hidden variables within neonatal vocalizations that have predictive power for postpubertal dimensions relevant to ASD. After variables of neonatal vocalizations were selected by least absolute shrinkage and selection operator (Lasso), random forest, and Markov model, regression models were constructed to predict postpubertal dimensions relevant to ASD. While the average scores of many standard behavioral assays designed to model dimensions did not differentiate a model of 16p11.2 hemizygous deletion and wild-type littermates, specific call types and call sequences of neonatal vocalizations predicted individual variability of postpubertal reciprocal social interaction and olfactory responses to a social cue in a genotype-specific manner. Deep-phenotyping and computational analyses identified hidden variables within neonatal social communication that are predictive of postpubertal behaviors.

Background The effect of rituximab on acute disseminated encephalomyelitis (ADEM) followed by recurrent optic neuritis (ON) is not yet known. Patient We are reporting the case of a 4-year-old Japanese girl who was diagnosed with anti-myelin oligodendrocyte glycoprotein (MOG) antibody positive ADEM followed by recurrent ON. She developed altered mental status, left facial paralysis, left paresis, and experienced three episodes of ON. She was treated with rituximab and azathioprine (AZA) as prevention for recurrent ON. She relapsed under treatment with AZA when CD19 cells reappeared 6 months after the first rituximab infusion. However, she has not relapsed since her CD19 count was reduced and kept low with rituximab infusion. Conclusions It is conceivable that anti-MOG antibodies are involved in the pathology of “ADEM followed by recurrent ON,” and that the early introduction of rituximab, which is involved in the suppression of antibody production and has effects on CD20 T lymphocytes, may be a feasible treatment for ON. Due to the small number of patients, additional reports on prospectively followed patients are needed.

Leigh syndrome, which is a common phenotype of pediatric mitochondrial disease, is a progressive neurodegenerative disease. The typical neuroimaging findings of Leigh syndrome include bilateral symmetric lesions in the basal ganglia and/or the brainstem. However, there are a few reports on spinal cord involvement in patients with Leigh syndrome. In the present case, magnetic resonance imaging (MRI) obtained during infancy revealed symmetric lesions in the substantia nigra of a patient with Leigh syndrome with an NDUFA1 mutation; lesions of the bilateral putamen and brainstem were subsequently observed. Additionally, our patient presented large and extended spinal cord lesions. Therefore, this case is suggesting that we should consider the occurrence of spinal cord lesions as an atypical finding in Leigh syndrome.

We report the case of a 19-year-old female patient who had progressive chorea associated with a GNAO1 mutation. Chorea was refractory to multiple anticonvulsants, and the patient suffered from tiapride-induced neuroleptic malignant syndrome. After identification of a GNAO1 missense mutation at the age of 18years, topiramate treatment was initiated and the frequency of chorea decreased dramatically. The efficacy of topiramate may have been related to the inhibitory modulation of voltage-activated Ca2+ channels. Given the side effects and complications associated with neuroleptics and deep brain stimulation, respectively, topiramate is recommended for the first-line management of severe chorea associated with a GNAO1 mutation.

Connectivity impairment has frequently been associated with the pathophysiology of attention-deficit/hyperactivity disorder (ADHD). Although the connectivity of the resting state has mainly been studied, we expect the transition between baseline and task may also be impaired in ADHD children. Twenty-three typically developing (i.e., control) and 36 disordered (ADHD and autism-comorbid ADHD) children were subjected to connectivity analysis. Specifically, they performed an attention task, visual oddball, while their brains were measured by functional near-infrared spectroscopy. The results of the measurements revealed three key findings. First, the control group maintained attentive connectivity, even in the baseline interval. Meanwhile, the disordered group showed enhanced bilateral intra- and interhemispheric connectivities while performing the task. However, right intrahemispheric connectivity was found to be weaker than those for the control group. Second, connectivity and activation characteristics might not be positively correlated with each other. In our previous results, disordered children lacked activation in the right middle frontal gyrus. However, within region connectivity of the right middle frontal gyrus was relatively strong in the baseline interval and significantly increased in the task interval. Third, the connectivity-based biomarker performed better than the activation-based biomarker in terms of screening. Activation and connectivity features were independently optimized and cross validated to obtain the best performing threshold-based classifier. The effectiveness of connectivity features, which brought significantly higher training accuracy than the optimum activation features, was confirmed (88% versus 76%). The optimum screening features were characterized by two trends: (1) strong connectivities of right frontal, left frontal, and left parietal lobes and (2) weak connectivities of left frontal, left parietal, and right parietal lobes in the control group. We conclude that the attentive task-based connectivity effectively shows the difference between control and disordered children and may represent pathological characteristics to be feasibly implemented as a supporting tool for clinical screening.

Introduction Neuronal ceroid lipofuscinoses (NCLs; CLN) are mainly autosomal recessive neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigments in neuronal and other cells. Symptoms include visual disabilities, motor decline, and epilepsy. Causative genes are CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, CLN10, CLN11, CLN12, CLN13, and CLN14. We present the fourth Japanese case with a CLN6 mutation. Case presentation At 3 years of age, our patient became clumsy and fell down easily. He developed focal seizures with impaired consciousness and was started on carbamazepine. He showed ataxic walking and dysarthria with increased deep tendon reflexes. Interictal electroencephalogram revealed slow waves in the left temporal and occipital areas. Brain magnetic resonance imaging showed cerebellar atrophy and ventriculomegaly. In optical coherence tomography (OCT), the inner layer of the retina was thick and highly reflective. Exome sequencing revealed a known homozygous mutation, C.794_976del, p. (Ser265del) in CLN6. Discussion A total of 130 cases of NCL with CLN6 mutations have been reported globally, of which only four were from Japan including the current patient. The deletion of serine at position 265 has been reported in six cases. Ser265 is located in a region of short repeated sequences that is susceptible to mutation. Clinical trials of gene therapy using adeno-associated virus serotype 9 have started for NCL6, making early diagnosis crucial. OCT examination might be helpful in achieving a diagnosis.

Significance: It has been reported that children with attention-deficit hyperactivity disorder (ADHD) have impairment in the recognition of angry but not of happy facial expressions, and they show atypical cortical activation patterns in response to facial expressions. However, little is known about neural mechanisms underlying the impaired recognition of facial expressions in school-aged children with ADHD and the effects of acute medication on their processing of facial expressions. Aim: We aimed to investigate the possibility that acute administration of methylphenidate (MPH) affects processing of facial expressions in ADHD children. Approach: We measured the hemodynamic changes in the bilateral temporo-occipital areas of ADHD children observing the happy and angry facial expressions before and 1.5 h after MPH or placebo administration in a randomized, double-blind, placebo-controlled, crossover design study. Results: We found that, regardless of medication, happy expressions induced increased oxyhemoglobin (oxy-Hb) responses in the right inferior occipital region but not in the superior temporal region. For angry expressions, oxy-Hb responses increased after MPH administration, but not after placebo administration, in the left inferior occipital area, whereas there was no significant activation before MPH administration. Conclusions: Our results suggest that (1) ADHD children consistently recruit the right inferior occipital regions to process happy expressions and (2) MPH administration to ADHD children enhances cortical activation in the left inferior occipital regions when they process angry expressions.

Attention deficit/hyperactivity disorder (ADHD) has been frequently reported as co-occurring with autism spectrum disorder (ASD). However, ASD-comorbid ADHD is difficult to diagnose since clinically significant symptoms are similar in both disorders. Therefore, we propose a classification method of differentially recognizing the ASD-comorbid condition in ADHD children. The classification method was investigated based on functional brain imaging measured by near-infrared spectroscopy (NIRS) during a go/no-go task. Optimization and cross-validation of the classification method was carried out in medicated-naïve and methylphenidate (MPH) administered ADHD and ASD-comorbid ADHD children (randomized, double-blind, placebo-controlled, and crossover design) to select robust parameters and cut-off thresholds. The parameters could be defined as either single or averaged multi-channel task-evoked activations under an administration condition (i.e., pre-medication, post-MPH, and post-placebo). The ADHD children were distinguished by significantly high MPH-evoked activation in the right hemisphere near the midline vertex. The ASD-comorbid ADHD children tended to have low activation responses in all regions. High specificity (86 ± 4.1%; mean ± SD), sensitivity (93 ± 7.3%), and accuracy (82 ± 1.6%) were obtained using the activation of oxygenated-hemoglobin concentration change in right middle frontal, angular, and precentral gyri under MPH medication. Therefore, the significantly differing MPH-evoked responses are potentially effective features and as supporting differential diagnostic tools.

Objective: We aimed to clarify the validity of fNIRS measurement for assessing the methylphenidate (MPH) induced neuropharmacological effect in medication-naive children with attention deficit hyperactivity disorder (ADHD) with or without comorbid autism spectrum disorder (ASD), thereby providing the first evidence for differing neurofunctional pathology between the two groups. Methods: We monitored the effects of a single acute clinical dose of MPH on the cortical hemodynamics of 32 medication-naive ADHD children (ADHD with ASD n=11 and ADHD without ASD n=21) performing a go/no-go task before and 1.5 h after MPH or placebo administration, using a randomized, double-blind, placebo-controlled, crossover design. In addition, all subjects’ symptoms were monitored using the Japanese version of the ADHD Rating Scale-IV (ADHDRS- IV-J) before and one month after MPH administration. Results: Medication-naive ADHD children without ASD exhibited reduced right prefrontal activation. MPH medication elicited significant right prefrontal activation except in comparative conditions associated with the placebo effect. Medication-naive ADHD children with ASD exhibited marginal activation before the first day of medication and reduced activation after MPH medication in the right prefrontal area. While the neuropharmacological effects of MPH were different, ADHD-RS-IV-J scores were significantly improved one month after MPH administration in ADHD groups both with and without ASD. Conclusion: Taken together, these results suggest that ADHD with ASD is characterized by a different underlying neurofunctional pathology for inhibition control than that without ASD. To our knowledge, this is the first comparative neuroimaging study between ADHD patients with and without comorbid ASD.

In pediatrics studies, the quality of functional near infrared spectroscopy (fNIRS) signals is often reduced by motion artifacts. These artifacts likely mislead brain functionality analysis, causing false discoveries. While noise correction methods and their performance have been investigated, these methods require several parameter assumptions that apparently result in noise overfitting. In contrast, the rejection of noisy signals serves as a preferable method because it maintains the originality of the signal waveform. Here, we describe a semi-learning algorithm to detect and eliminate noisy signals. The algorithm dynamically adjusts noise detection according to the predetermined noise criteria, which are spikes, unusual activation values (averaged amplitude signals within the brain activation period), and high activation variances (among trials). Criteria were sequentially organized in the algorithm and orderly assessed signals based on each criterion. By initially setting an acceptable rejection rate, particular criteria causing excessive data rejections are neglected, whereas others with tolerable rejections practically eliminate noises. fNIRS data measured during the attention response paradigm (oddball task) in children with attention deficit/hyperactivity disorder (ADHD) were utilized to evaluate and optimize the algorithm’s performance. This algorithm successfully substituted the visual noise identification done in the previous studies and consistently found significantly lower activation of the right prefrontal and parietal cortices in ADHD patients than in typical developing children. Thus, we conclude that the semi-learning algorithm confers more objective and standardized judgment for noise rejection and presents a promising alternative to visual noise rejection

Objective Attention Deficit Hyperactivity Disorder (ADHD), a common developmental syndrome with inattention, hyperactivity, and impulsivity, is typically treated with the psychostimulant drug, methylphenidate (MPH). We explored the feasibility of using functional near-infrared spectroscopy (fNIRS) to search for a clinically implementable biological marker for the acute MPH effect on ADHD children. Methods Following an MPH washout period, twelve ADHD children performed a go/no-go task before and 1.5 h after MPH intake. fNIRS was used to monitor the lateral prefrontal cortical hemodynamics of ADHD children performing a go/no-go task. Results There was no significant activation in the lateral prefrontal cortices examined before MPH intake. However, after MPH intake, significant MPH-elicited activation (oxygenated hemoglobin signal increase) was detected in the right lateral prefrontal cortex (LPFC) implicated with response inhibition functions. There was a large significant correlation between increases in task performance and activation in the right LPFC. Conclusions The improved cognitive performance was associated with activation in the right LPFC, which might serve as a biological marker to monitor the effect of MPH in ADHD children. Significance MPH-effect assessment in ADHD children using fNIRS can be performed within a 3 h stay at a hospital during a single visit, and thus may be integrated into clinical practice.

This erratum corrects an error in “Adaptive algorithm utilizing acceptance rate for eliminating noisy epochs in block-design functional near-infrared spectroscopy data: application to study in attention deficit/hyperactivity disorder children.”

Autism spectrum disorder (ASD) is characterized by impairment in social communication and the presence of restricted and repetitive behaviors and interests. Executive function impairment is reportedly partially responsible for these symptoms. Executive function includes planning, flexibility, and inhibitory control. Although planning and flexibility in ASD have been consistently reported as atypical, the atypicality of inhibitory control remains controversial. As most previous studies have used nonsocial stimuli to investigate inhibitory control in ASD, the effects of socially relevant information on the inhibitory control system in individuals with ASD remain unclear. Therefore, we developed a go/no-go task with gaze stimuli and measured hemodynamic responses in the right prefrontal cortex (PFC), involved in inhibitory processing in both typically developing (TD) children and children with ASD, using functional near-infrared spectroscopy. Direct gaze induced commission errors to similar extents in both groups. Contrary to the behavioral responses, neural activation in the right PFC was modulated by gaze direction only in the TD group. These findings suggest that the gaze-processing mechanisms in the prefrontal region may be affected by atypical gaze processing in other brain regions during an inhibitory control task with socially relevant information in ASD.

The current study aimed to explore the neural substrate for atomoxetine effects on attentional control in school-aged children with attention deficit hyperactivity disorder (ADHD) using functional near-infrared spectroscopy (fNIRS), which can be applied to young children with ADHD more easily than conventional neuroimaging modalities. Using fNIRS, we monitored the oxy-hemoglobin signal changes of 15 ADHD children (6 to 14 years old) performing an oddball task before and 1.5 h after atomoxetine or placebo administration, in a randomized, double-blind, placebo-controlled, crossover design. Fifteen age-, gender-, and intelligence quotient-matched normal controls without atomoxetine administration were also monitored. In the control subjects, the oddball task recruited the right prefrontal and inferior parietal cortices. The right prefrontal and parietal activation was normalized after atomoxetine administration in ADHD children. This was in contrast to our previous study using a similar protocol showing methylphenidate-induced normalization of only the right prefrontal function. fNIRS allows the detection of differential neuropharmacological profiles of both substances in the attentional network: the neuropharmacological effects of atomoxetine to upregulate the noradrenergic system reflected in the right prefrontal and inferior parietal activations and those of methylphenidate to upregulate the dopamine system reflected in the prefrontal cortex activation.

Endoscopic ultrasonography (EUS) was helpful for the diagnosis of rectal cancer associated with ulcerative colitis. The patient was a 38-year-old Japanese man with a 19-year history of relapsing-remitting type ulcerative colitis involving the entire colon. Routine colonoscopy revealed multiple polypoid prominences in the upper portion of the rectum. EUS revealed a hypoechoic mass in the submucosa beneath and around the polypoid lesion on the most oral side. Signet ring cells were found in a biopsy specimen from this lesion. Subtotal colectomy was performed. A depressed lesion was observed around the prominence on the most oral side; histologically, this lesion was poorly differentiated mucinous and signet ring cell carcinoma extending into the subserosa. The polypoid lesion on the most anal side was well differentiated adenocarcinoma, which was limited to the mucosa. Our findings suggest that EUS is helpful for detecting invasive cancer associated with ulcerative colitis.

An 11-year-old girl with cerebral palsy was admitted with complaints of frequent vomiting and upper abdominal distension. After plain X-ray examination and upper gastrointestinal contrast study, she was diagnosed as having acute mesenterioaxial volvulus of the stomach. Endoscopic reduction was successfully performed. We describe herein the technical details of the endoscopic reduction in this rare case. In non-infant pediatric patients with primary gastric volvulus, we recommend that endoscopic reduction be considered prior to surgical intervention.

Upon addition of an excess amount of an aldehyde 3, the Mukaiyama aldol reaction of a silyl enol ether 2 proceeds in tandem and two-directional fashion by the asymmetric catalysis of a binaphthol-derived chiral titanium complex (BINOL-Ti: 1) to give the silyl enol ether 4 in 77% isolated yield in more than 99% ee and 99% de. The present asymmetric catalytic Mukaiyama aldol reaction is characterized by amplification phenomena of the product chirality on going from the one-directional aldol intermediate 6 (98.5% ee, R) to the two-directional product 4 (99.6% ee, R.R). Further transformation of the pseudo C2 symmetric product 4 (> 99% ee, > 99% de) in its' protected form as the silyl enol ether is established leading to a potentially potent analogue of HIVP inhibitor 9a.

The current study aimed to explore the neural substrate for methylphenidate effects on attentional control in school-aged children with attention deficit hyperactivity disorder (ADHD) using functional near-infrared spectroscopy (fNIRS), which can be applied to young children with ADHD more easily than conventional neuroimaging modalities. Using fNIRS, we monitored the oxy-hemoglobin signal changes of 22 ADHD children (6 to 14 years old) performing an oddball task before and 1.5 h after methylphenidate or placebo administration, in a randomized, double-blind, placebo-controlled, crossover design. Twenty-two age- and gender-matched normal controls without methylphenidate administration were also monitored. In the control subjects, the oddball task recruited the right prefrontal and inferior parietal cortices, and this activation was absent in premedicated ADHD children. The reduced right prefrontal activation was normalized after methylphenidate but not placebo administration in ADHD children. These results are consistent with the neuropharmacological effects of methylphenidate to upregulate the dopamine system in the prefrontal cortex innervating from the ventral tegmentum (mesocortical pathway), but not the noradrenergic system from the parietal cortex to the locus coeruleus. Thus, right prefrontal activation would serve as an objective neurofunctional biomarker to indicate the effectiveness of methylphenidate on ADHD children in attentional control. fNIRS monitoring enhances early clinical diagnosis and the treatment of ADHD children, especially those with an inattention phenotype.

Deletion of the monoamine oxidase (MAO)-A and MAO-B was detected in two male siblings and in their mother. The approximately 800-kb deletion, extending from about 43.0MB to 43.8MB, was detected by array comparative genomic hybridization analysis. The MAOA and MAOB genes were included in the deletion, but the adjacent Norrie disease gene, NDP, was not deleted. The boys had short stature, hypotonia, severe developmental delays, episodes of sudden loss of muscle tone, exiting behavior, lip-smacking and autistic features. The serotonin levels in their cerebrospinal fluid were extremely elevated. Another set of siblings with this deletion was reported previously. We propose recognition of MAOA/B deletion syndrome as a distinct disorder.

A 64-year-old man had a sudden onset of gastrointestinal bleeding. He had been diagnosed as systemic mantle cell lymphoma (MCL) 27 months ago, and the first-line chemotherapy was undergone. After maintaining CR state during 12 months, he showed PD. Upper gastrointestinal endoscopy revealed multiple lymphomatous polyps, and active bleeding was noticed from the ulceration of the top of these polyps. After hemostasis was gained, biopsies were done twice and a local recurrence of MCL was diagnosed finally by immunohistological examination. In consequence of the second-line chemotherapy including bendamustine, he was introduced into CR again. We present this rare case of long-term follow up of MCL with a series of upper gastrointestinal endoscopy.

Eight patients with fecal incontinence after surgery for anorectal malformations received one to four sessions of biofeedback therapy. The physiologic status of the anorectum before and after biofeedback therapy was investigated by anorectal manometry and electromyography of the external sphincter. The effectiveness of biofeedback treatment and the indications for its use in patients with fecal incontinence were investigated. Three of the four patients responded well to biofeedback therapy following three or four training sessions. However, in the other five patients who had only one or two sessions, a good response to the therapy was not obtained. Anorectal manometry and electromyography recordings of the external sphincter showed that biofeedback therapy improved voluntary sphincter function. The three good responders had an adequate anal resting pressure both before and after biofeedback therapy and had good electrical activity of the external sphincter after therapy. In the presence of adequate resting anal pressure, biofeedback therapy should be attempted for the treatment of fecal incontinence after correction of anorectal malformations before resorting to further surgical intervention. However, biofeedback therapy may not be suitable if the sphincters are markedly hypoplastic, or do not surround the anal canal after an inappropriate pull-through operation.

Upon addition of an excess amount of an aldehyde 3, the Mukaiyama aldol reaction of a silyl enol ether 2 proceeds in tandem and two-directional fashion by the asymmetric catalysis of a binaphthol-derived chiral titanium complex (BINOL-Ti: 1) to give the silyl enol ether 4 in 77% isolated yield in more than 99% ee and 99% de. The present asymmetric catalytic Mukaiyama aldol reaction is characterized by amplification phenomena of the product chirality on going from the one-directional aldol intermediate 6 (98.5% ee, R) to the two-directional product 4 (99.6% ee, R.R). Further transformation of the pseudo C2 symmetric product 4 (> 99% ee, > 99% de) in its' protected form as the silyl enol ether is established leading to a potentially potent analogue of HIVP inhibitor 9a.

To avoid surgery-related complications, intralesional OK-432 therapy was used in 23 patients with unresectable lymphangiomas (1986 through 1989). Total or near total shrinkage of the lesions, without serious complication, was noted in 10, marked shrinkage in 8, slight shrinkage in 3, and no response was noted in the remaining 2. Recurrence of the lesions has not been observed during follow-up (4 to 35 months). The side effects of OK-432 therapy were a fever for 2 to 3 days and a local inflammatory reaction lasting 3 to 5 days. The local inflammation did not cause any damage to the overlying skin and did not lead to scar formation. The results suggest that intralesional OK-432 therapy is effective for most unresectable lymphangiomas.

Biofeedback therapy was performed in 13 patients with encopresis using newly devised computerized equipment. The patients were children, aged 6 to 11 years, who had not responded to trials of conventional therapy with a mean follow-up period of three years and two months. The biofeedback therapy was effective in 12 of the 13 patients after one course of therapy. This positive results was attributed to the computerized equipment. The patients could more easily recognize how to squeeze their anal sphincters after seeing a colored ellipse representing sphincter pressure on a monitor. The results of anorectal manometry and electromyography (EMG) showed that biofeedback therapy improved the voluntary sphincter function and rectal sensation. Therefore, biofeedback therapy might be effective in patients with encopresis whose sphincter functions are intact.

La sensibilite de la region anale et du rectum apres chirurgie pour malformation anorectale a ete etudiee chez 32 patients (17 avec une malformation de type haut, 6 avec une malformation de type intermediaire et 9 avec une malformation de type bas). Les enfants etaient âges de 5 a 16 ans. Chez tous on a recherche s'ils pouvaient bien percevoir les sensations de toucher, de douleur, de chaleur et de froid, sur la peau perianale et dans le canal anal. La sensibilite rectale et la souplesse ont ete aussi examinees par manometrie anorectale. Tous les patients avaient des sensations normales sur la peau perianale mais moins de la moitie d'entre eux avaient des sensations normales dans le canal anal. Les patients beneficiant d'un controle intestinal normal ont presente un pourcentage significativement plus eleve de bonne sensation au toucher dans le canal anal que ceux atteints d'une incontinence fecale ou d'une constipation. Les auteurs suggerent qu'un defect sensitif du canal anal entraine une perturbation dans la discrimination entre les gaz et les feces. Les resultats de cette etude ont montre que l'elasticite reduite du neorectum et une compliance rectale basse etaient des facteurs importants pour l'incontinence fecale apres la chirurgie des malformations anorectales.

Motility of the rectosigmoid and rectum and reservoir function of the rectum after surgery for anorectal malformations were investigated in 32 patients (17 with high type, 6 with intermediate type, and 9 with low type anomaly) aged 5 to 16 years. All 32 patients were examined manometrically as well as with a newly devised myoelectrical method. Manometry showed that the values of maximum anal pressure and anorectal pressure difference in the high type were significantly lower than those in the low type. However, the incidence of contractile activity of the rectosigmoid was not significantly different between these two groups. The threshold sensation pressure and the maximum tolerable pressure in the high type were significantly higher than those in the low type, and the rectal compliance in the high type was significantly lower than that in the low type. Electromyography was recorded at 8 cm and 5 cm from the anal verge. Two types of slow waves were observed, a faster rhythm and a slower rhythm. Their frequency was similar in the three groups. However, the numbers of spike bursts in the high type and intermediate type were significantly higher than those in the low type. These results indicate that in addition to an inadequate anal resting pressure a loss of optimal rectal sensation or rectal reservoir function might be associated with fecal incontinence in the high type and that increased spike bursts might play some role in rectal motility.