| 1. |
- Wang, Li-San, et al.
(författare)
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Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States.
- 2015
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Ingår i: JAMA neurology. - : American Medical Association (AMA). - 2168-6157 .- 2168-6149. ; 72:2
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Tidskriftsartikel (refereegranskat)abstract
- Recently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at position 673 (A673T), appears to protect against late-onset Alzheimer disease (AD). We evaluated the frequency of this variant in AD cases and cognitively normal controls to determine whether this variant will significantly contribute to risk assessment in individuals in the United States.
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| 2. |
- Johansson, Maria E I, 1961, et al.
(författare)
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Autism spectrum disorder and underlying brain mechanism in the oculoauriculovertebral spectrum.
- 2007
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Ingår i: Developmental Medicine and Child Neurology. - : Wiley. - 0012-1622 .- 1469-8749. ; 49:4, s. 280-288
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Tidskriftsartikel (refereegranskat)abstract
- As part of a multidisciplinary study, the rate of autism spectrum disorder (ASD), learning disability (LD), and brain abnormalities was examined in 20 participants (12 males, 8 females; age range 8mo-17y, mean age 8y 1mo) diagnosed as falling within the oculoauriculovertebral spectrum (OAV). A neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Two individuals met diagnostic criteria for autism, one for autistic-like condition, and five for autistic traits. Four patients had mild LD, three severe LD, two profound LD, and two borderline intellectual functioning. Neuroimaging indicated cerebral abnormalities in more than half of the patients. Abnormalities of white/grey matter were found in more than half of examined individuals; enlargement of ventricles in more than a third. Results indicate that at least a subgroup of ASD may be associated with errors in early embryonic brain development. Awareness of the coexistence of OAV/ASD is important in habilitation care of individuals with OAV.
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| 3. |
- Johansson, Maria E I, 1961, et al.
(författare)
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Autism spectrum disorders and underlying brain pathology in CHARGE association.
- 2006
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Ingår i: Developmental Medicine and Child Neurology. - 0012-1622. ; 48:1, s. 40-50
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Tidskriftsartikel (refereegranskat)abstract
- The rate of autism spectrum disorders (ASDs) and brain abnormalities was analyzed in 31 individuals (15 males, 16 females; age range 1mo to 31y, mean age 8y 11mo) with CHARGE association, as part of a multidisciplinary study. A meticulous neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Judgement regarding ASDs was impossible in three infants and three patients who were deaf and blind. Five individuals met diagnostic criteria for autism, five for an autistic-like condition, and seven for autistic traits. Brain abnormalities were indicated in almost three-quarters of examined individuals, and midline abnormalities of the forebrain in one-third. Awareness of the coexistence of CHARGE and ASDs is important in habilitation care in CHARGE. Moreover, the results indicate that a subgroup of ASDs may be associated with errors in early embryonic brain development.
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| 4. |
- Johansson, Maria E I, 1961, et al.
(författare)
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) Autistic spectrum disorders in Mobius sequence: a comprehensive study of 25 individuals
- 2001
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Ingår i: Developmental Medicine and Child Neurology. - : Wiley. - 0012-1622 .- 1469-8749. ; 43:5, s. 338-345
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Tidskriftsartikel (refereegranskat)abstract
- The prevalence of autistic disorder was analysed in 25 individuals with Möbius sequence, a disorder with brain-stem dysfunction. The sample consisted of 18 males and seven females (20 participants were aged 2 to 22 years, and five were aged 1, 19 and 23 months, and 55 years old). Participants were recruited after a nationwide call and were part of a multidisciplinary study of individuals with Möbius sequence. They were given a meticulous neuropsychiatric examination including standardized autism diagnostic interviews. Ten individuals had an autistic spectrum disorder. Six of these met all diagnostic criteria for autism. In 23 individuals cognitive development could be assessed. Eight of those 23 patients had clear learning disability and six individuals were functioning in the normal but subaverage range. Autistic spectrum disorder and learning disability occurred in more than a third of the examined patients. Considering the hospital-based nature of the sample, these findings may be overestimates. Nevertheless, awareness of this coexistence is important in the diagnosis and habilitation care of children with Möbius sequence. Moreover, the results provide further support for the notion of a subgroup of autistic spectrum disorders being caused by first trimester brain-stem damage.
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| 5. |
- Li, Yumeng, et al.
(författare)
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Lower extremity kinematics of curve sprinting displayed by runners using a transtibial prosthesis
- 2018
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Ingår i: Journal of Sports Sciences. - : Taylor & Francis. - 0264-0414 .- 1466-447X. ; 36:3, s. 293-302
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of the study was to determine if the kinematics exhibited by skilled runners wearing a unilateral, transtibial prosthesis during the curve section of a 200-m sprint race were influenced by interaction of limb-type (prosthetic limb (PROS-L) vs. nonprosthetic limb (NONPROS-L)) and curve-side (inside and outside limb relative to the centre of the curve). Step kinematics, toe clearance and knee and hip flexion/extension, hip ab/adduction for one stride of each limb were generated from video of 13 males running the curve during an international 200 m transtibial-classified competition. Using planned comparisons (P < 0.05), limb-type and curve-side interactions showed shortest support time and lowest hip abduction displacement by outside-NONPROS-L; shortest step length and longest time to peak knee flexion by the inside-PROS-L. For limb-type, greater maximum knee flexion angle and lower hip extension angles and displacement during support and toe clearance of PROS-Ls occurred. For curve-side, higher hip abduction angles during non-support were displayed by inside-limbs. Therefore, practitioners should consider that, for curve running, these kinematics are affected mostly by PROS-L limitations, with no clear advantage of having the PROS-L on either side of the curve.
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| 6. |
- Miller, Marilyn T, et al.
(författare)
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Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review.
- 2005
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Ingår i: International Journal of Developmental Neuroscience. - : Wiley. - 0736-5748 .- 1873-474X. ; 23:2-3, s. 201-219
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Tidskriftsartikel (refereegranskat)abstract
- Autism is a complex developmental disorder without an established single etiology but with significant contributions from genetic studies, functional research, and neuropsychiatric and neuroradiologic investigations. The purpose of this paper is to review the findings in five studies involving individuals manifesting the characteristic findings of autism spectrum disorder associated with malformations and dysfunctions known to result from early embryogenic defects. These investigations include two associated with teratogens (thalidomide embryopathy, Mobius sequence with misoprostol) and three (most Mobius sequence cases, CHARGE association, Goldenhar syndrome) with no known etiology. These studies suggest that early embryonic development errors often involving cranial nerve palsies, internal and external ear malformations, ophthalmologic anomalies, and a variety of systemic malformations may be associated with autism spectrum disorders statistically more frequently than expected in a normal population. Although the exact time of developmental insult for each condition cannot be identified, the evidence is that it may occur as early as week 4 to 6+ of embryogenesis.
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| 7. |
- Miller, Marilyn T, et al.
(författare)
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Autism with ophthalmologic malformations: the plot thickens.
- 2004
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Ingår i: Transactions of the American Ophthalmological Society. - 0065-9533. ; 102
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Möbius 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 Möbius 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 Möbius study, 28 children with a diagnosis of Möbius 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 Möbius 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 Möbius 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.
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| 8. |
- Miller, Marilyn T., et al.
(författare)
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Thalidomide and Misoprostol: Ophthalmologic Manifestations and Associations Both Expected and Unexpected
- 2009
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Ingår i: BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY. - : Wiley. - 1542-0752. ; 85:8, s. 667-676
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Forskningsöversikt (refereegranskat)abstract
- Thalidomide is a very potent teratogen capable of causing severe systemic malformations if the fetus is exposed during the sensitive period. Although structural anomalies of the eye can occur from thalidomide exposure, the most frequent eye complication is secondary to damage to the cranial nuclei in the brain stem, resulting in aberrant neurologic connections causing a condition of abnormal ocular movement, Duane syndrome. A less frequent anomalous neurologic complication is tearing when eating (paradoxical gustolacrimal tearing or crocodile tears) or lack of emotional tearing. The involvement of the 6th and 7th cranial nerves, often seen together in the thalidomide-affected individual, is also characteristic of Möbius syndrome/sequence. This syndrome usually occurs sporadically, but characteristic findings of this condition have also been observed in South American children who were born after an unsuccessful attempt to induce abortion with the prostaglandin drug misoprostol (Cytotec©). Aberrant tearing also occurs in some individuals with Möbius syndrome. Autism spectrum disorder (ASD), an unexpected associated finding in a Swedish thalidomide study, is now also noted in Möbius studies, in patients both with and without exposure to misoprostol. Birth Defects Research (Part A) 2009.
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| 9. |
- Miller, Marilyn, T, et al.
(författare)
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The puzzle of autism: an ophthalmologic contribution.
- 1998
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Ingår i: Transactions of the American Ophthalmological Society. - 0065-9533. ; 96
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Tidskriftsartikel (refereegranskat)abstract
- A previous study of 86 thalidomide-affected subjects with ophthalmic manifestations revealed the unexpected finding of autism in 4 of the 5 severely retarded individuals. The subjects had anomalies associated with an early gestational effect of thalidomide, including facial nerve palsy and incomitant strabismus. Because autism has been observed in a few cases of Möbius sequence (Möbius syndrome), a condition characterized by involvement of the sixth and seventh cranial nerves, the similarity to early thalidomide embryopathy suggested a relation between cranial nerve involvement and autism. The present study was undertaken to further evaluate the association of autism with patients manifesting findings of Möbius syndrome.
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| 10. |
- Strömland, Kerstin, 1934, et al.
(författare)
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CHARGE association in Sweden: malformations and functional deficits.
- 2005
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Ingår i: American journal of medical genetics. Part A. - : Wiley. - 1552-4825. ; 133:3, s. 331-9
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Tidskriftsartikel (refereegranskat)abstract
- CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA.
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