Taking drugs during pregnancy. How safe are the unsafe? (1/30)

QUESTION: I prescribed misoprostol to one of my patients with a peptic ulcer. When she found out she was pregnant while on the drug, both she and, admittedly, I were very scared to learn that the drug is teratogenic in that it causes Mobius syndrome. How great is the risk? ANSWER: Very small. Although women who use misoprostol during the first trimester have a 30-fold higher risk of having babies with Mobius syndrome, the malformation is so rare that, even if you see 1000 women who took misoprostol during embryogenesis, you might not see a single child with the syndrome. It is crucial to explain the size of the risk; otherwise women tend to believe the risk is huge even when, in fact, it is hardly measurable.  (+info)

Autism and Mobius sequence: an exploratory study of children in northeastern Brazil. (2/30)

The psychiatric examination was performed with diagnostic instruments for autism (DSM-IV and Childhood Autism Rating Scale-CARS) in 23 children with Mobius sequence. From the 23 patients studied with Mobius sequence, five (26.1%) met the diagnostic criteria for infantile autism according DSM-IV and two (8.6%), under two years old, showed autistic-like behavior. The scores for six children were compatible to severe autism symptoms according CARS and one child met the criteria for moderate autism symptoms. Among five children with autism, three (60%) had positive history of misoprostol exposure during the first trimester of pregnancy and from two cases autistic-like, one (50%) had positive history of misoprostol exposure during pregnancy. According to our data, this is the first report of Mobius sequence with autism and positive history of misoprostol use during pregnancy.  (+info)

Eshkol-Wachman movement notation in diagnosis: the early detection of Asperger's syndrome. (3/30)

The diagnostic criteria of Asperger's syndrome (AS), considered a part of the autistic spectrum disorder, are still unclear. A critical marker, which distinguishes AS from autism, is the presence of language. The ability of a child with AS to acquire and use language early results in the fact that AS usually is diagnosed much later than autism. Autism is not usually diagnosed until around the age of 3, whereas AS usually is not diagnosed until the child is 6 or 7 years of age. In the present article, using Eshkol-Wachman movement notation, we present evidence that abnormal movement patterns can be detected in AS in infancy. This finding suggests that AS can be diagnosed very early, independent of the presence of language. As shown earlier by us, almost all of the movement disturbances in autism can be interpreted as infantile reflexes "gone astray"; i.e., some reflexes are not inhibited at the appropriate age in development, whereas others fail to appear when they should. This phenomenon appears to apply to AS as well. Based on preliminary results, a simple test using one such reflex is proposed for the early detection of a subgroup of children with AS or autism.  (+info)

Mobius syndrome. (4/30)

We describe a case of Mobius syndrome in a 3-month-old infant. Striking imaging findings of pontine hypoplasia in the region of the 6th and the 7th nerve complexes were noted. In addition, absence of the middle cerebellar peduncles was noted, a finding that, to our knowledge, has never been reported before in the literature. Clinical presentations, other radiologic findings, and a possible pathogenesis are discussed.  (+info)

Autism with ophthalmologic malformations: the plot thickens. (5/30)

PURPOSE: To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Mobius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Mobius syndrome (sequence) study. METHODS: In the Swedish CHARGE study, 31 patients met the inclusion criteria (3+ or 4 of the common characteristics of the CHARGE syndrome). The same team of investigators also evaluated 20 Swedish patients with Goldenhar syndrome. In the Brazilian Mobius study, 28 children with a diagnosis of Mobius sequence were studied; some children had a history of exposure during their mother's pregnancy to the abortifacient drug misoprostol in an unsuccessful abortion attempt. RESULTS: In the CHARGE study, five patients had the more severe autism disorder and five had autistic-like condition. In the Goldenhar study, two had autism disorder and one had autistic-like condition. In the Brazilian Mobius study, the systemic findings of the misoprostol-exposed and misoprostol-unexposed patients were almost undistinguishable, and ASD was present in both groups (autism disorder in five and autistic-like condition in three). CONCLUSION: Autism spectrum disorder has been reported in two conditions with known early pregnancy exposure to the teratogenic agents thalidomide and misoprostol. In the Brazilian Mobius study, autism also occurred in both the misoprostol-exposed and misoprostol-unexposed groups. Autism also was present in patients with both CHARGE association and Goldenhar syndrome.  (+info)

Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements. (6/30)

PURPOSE: The clinical and molecular genetic classification of syndromes with congenital limitation of eye movements and evidence of cranial nerve dysgenesis continues to evolve. This monograph details clinical and molecular genetic data on a number of families and isolated patients with congenital fibrosis of the extraocular muscles (CFEOM) and related disorders, and presents an overview of the mechanisms of abnormal patterns of motor and sensory cranial nerve development in these rare syndromes. METHODS: Clinical examination of one patient with CFEOM1, one family with clinical features of CFEOM2, one family with recessive CFEOM3, one family with horizontal gaze palsy and progressive scoliosis (HGPPS), and four patients with various combinations of congenital cranial nerve abnormalities. Genotyping of families with CFEOM and HGPPS for polymorphic markers in the regions of the three known CFEOM loci and in the HGPPS region, and mutation analysis of the ARIX and KIF21A genes in patients with CFEOM were performed according to standard published protocols. RESULTS: The patient with CFEOM1 had the second most common mutation in KIF21A, a 2861 G>A mutation that resulted in an R954Q substitution. The family with CFEOM2 phenotype did not map to the CFEOM2 locus. The family with recessive CFEOM3 did not map to any of the known loci. The HGPPS family mapped to 11q23-q25. One patient had optic nerve hypoplasia and fifth nerve dysfunction. Two patients had the rare combination of Mobius syndrome and CFEOM. One patient had Mobius syndrome and fifth nerve dysfunction. CONCLUSIONS: There is genetic heterogeneity in CFEOM2 and CFEOM3. Abnormalities in sensory nerves can also accompany abnormalities of motor nerves, further substantiating the effect of individual mutations on developing motor as well as sensory cranial nerve nuclei.  (+info)

The spectrum of Mobius syndrome: an electrophysiological study. (7/30)

We studied the nature and extent of facial muscle innervation and the involvement of the motor and sensory long tracts in Mobius syndrome, in order to shed light on the pathophysiological mechanism of the syndrome. Standardized blink reflexes, direct responses of the facial nerves to the orbicularis oculi muscles and concentric needle electrode electromyography in orbicularis oculi and/or oris muscles were measured in 11 patients with Mobius syndrome, of whom six participated in MRI studies, all showing absent facial nerves. We performed motor- and somatosensory-evoked potentials in seven Mobius patients. We demonstrated three distinct patterns of abnormalities suggesting different sites of the primary lesion in different patients. (i) Presence of normal blink reflexes and facial compound motor action potentials, normal habituation tests, a reduced recruitment in the facial muscles and an aberrant 'blink reflex-like' response of the orbicularis oculi muscle upon stimulation of the facial nerve region, which suggests a supranuclear origin of the defect. (ii) Absent blink reflexes, absent direct responses of the facial nerves and absent motor activity on needle electromyography, indicating a defect at the facial nuclear level. However, the nuclear defect might mask an additional supranuclear defect, which cannot, therefore, be excluded in these patients. (iii) A disperse pattern of facial compound action potentials combined with long latencies that were recorded with concentric needle electrodes, indicating involvement of motor axons in the facial nerve, possibly secondary to nuclear involvement. An additional supranuclear defect cannot be excluded in these cases. All evoked potentials studied were normal. The electrophysiological findings of the facial muscles show a spectrum of disturbances varying in degree of severity and diverse in the extent of structures involved, in 11 Mobius patients. At one end of the spectrum are patients with completely immobile faces in whom electrophysiological testing shows no signs of involvement of the facial nuclei, nerves or muscles, suggestive of a dysfunction at the supranuclear level. At the other extreme of the spectrum are patients with complete absence of responses upon facial nerve stimulation and absence of motor unit activity. This is at least indicative of a defect at the facial nuclear level. While a supranuclear defect is compatible with the concept that Mobius syndrome is a developmental disorder of the lower brainstem, intact facial nuclei as part of the syndrome has not been suggested before. The findings corroborate the concept of the Mobius syndrome being a complex regional developmental disorder of the brainstem.  (+info)

Surgical correction of unilateral and bilateral facial palsy. (8/30)

Unilateral and bilateral facial palsies are debilitating and depressing conditions for the patient. For the past 30 years attempts have been made to improve the reanimation of these patients. The ability to transfer axons over significant distances with nerve grafts and the transfer of muscle that can be revascularised by microvascular surgery greatly improves results of this surgery. The revascularisation of muscle has been the important step forward but the re-focusing of interest in this condition has brought about a number of peripheral advances.  (+info)

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