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Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted.

ABSTRACT: The objective of this study was to compare the prevalence of genetic disorders in anorectal malformation (ARM) patients with upper limb anomalies to that in ARM patients with other associated anomalies. A retrospective case study was performed in two pediatric surgery centers. All patients born between 1990 and 2012 were included. VACTERL (vertebral defects (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R), and limb anomalies (L)) was defined as at least three components present. We included 700 ARM patients: 219 patients (31 %) had isolated ARM, 43 patients (6 %) had a major upper limb anomaly, and 438 patients (63 %) had other associated anomalies. The most prevalent upper limb anomalies were radial dysplasia (n?=?12) and hypoplastic thumb (n?=?11). Ten of the 43 patients (23 %) with an upper limb anomaly were diagnosed with a genetic disorder-nine also met the VACTERL criteria-vs. 9 % of ARM patients with other anomalies (p?=?0.004, chi-squared test).Genetic disorders are twice as frequently diagnosed in ARM patients with upper limb anomalies than in those with other anomalies. As they also frequently meet the VACTERL criteria, it is important to consider VACTERL as a diagnosis per exclusionem. Genetic counseling is certainly warranted in these patients.• Anorectal malformations (ARMs) often co-occur with other congenital anomalies, including upper limb anomalies, mainly of pre-axial origin. • Co-occurrence of ARMs and upper limb anomalies is seen in disorders such as Townes-Brocks syndrome, Fanconi anemia, and VACTERL association. What is New: • ARM patients with a major upper limb anomaly-with or without other congenital anomalies-have a twofold greater chance of a genetic disorder than have non-isolated ARM patients without upper limb anomalies. • Not all upper limb anomalies in ARM patients are part of the VACTERL association; a workup for genetic evaluation is proposed.

SUBMITTER: van den Hondel D

PROVIDER: S-EPMC4799257 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature

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Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted.

van den Hondel Desiree D Wijers Charlotte H W CH van Bever Yolande Y de Klein Annelies A Marcelis Carlo L M CL de Blaauw Ivo I Sloots Cornelius E J CE IJsselstijn Hanneke H

European journal of pediatrics 20151024 4

<h4>Unlabelled</h4>The objective of this study was to compare the prevalence of genetic disorders in anorectal malformation (ARM) patients with upper limb anomalies to that in ARM patients with other associated anomalies. A retrospective case study was performed in two pediatric surgery centers. All patients born between 1990 and 2012 were included. VACTERL (vertebral defects (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia ...[more]

PMID: 26498647

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Project description:BACKGROUND:Friedreich ataxia (FRDA) is a disease with neurological and systemic involvement. Clinical assessment tools commonly used for FRDA become less effective in evaluating decay in patients with advanced FRDA, particularly when they are in a wheelchair. Further motor worsening mainly impairs upper limb function. In this study, we tested if serious games (SG) developed for rehabilitation can be used as an assessment tool for upper limb function even in patients with advanced FRDA. METHODS:A specific SG has been developed for physical rehabilitation of patients suffering from neurologic diseases. The use of this SG, coupled with Kinect sensor, has been validated to perform functional evaluation of the upper limbs with healthy subjects across lifespan. Twenty-seven FRDA patients were included in the study. Patients were invited to perform upper limb rehabilitation exercises embedded in SG. Motions were recorded by the Kinect and clinically relevant parameters were extracted from the collected motions. We tested if the existence of correlations between the scores from the serious games and the severity of the disease using clinical assessment tools commonly used for FRDA. Results of patients were compared with a group a healthy subjects of similar age. RESULTS:Very highly significant differences were found for time required to perform the exercise (increase of 76%, t(68)?=?7.22, P?<?0.001) and for accuracy (decrease of 6%, t(68)?=?-?3.69, P?<?0.001) between patients and healthy subjects. Concerning the patients significant correlations were found between age and time (R?=?0.65, p?=?0.015), accuracy (R?=?-?0.75, p?=?0.004) and the total displacement of upper limbs. (R?=?0.55, p?=?0.031). Statistically significant correlations were found between the age of diagnosis and speed related parameters. CONCLUSIONS:The results of this study indicate that SG reliably captures motor impairment of FRDA patients due to cerebellar and pyramidal involvement. Results also show that functional evaluation of FRDA patients can be performed during rehabilitation therapy embedded in games with the patient seated in a wheelchair. TRIAL REGISTRATION:The study was approved as a component of the EFACTS study ( Clinicaltrials.gov identifier NCT02069509 , registered May 2010) by the local institutional Ethics Committee (ref. P2010/132).

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Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted.

Publications

Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted.

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