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Læknablaðið - 15.02.1999, Qupperneq 41

Læknablaðið - 15.02.1999, Qupperneq 41
LÆKNABLAÐIÐ 1999; 85 135 Alcohol-Related Effects Clinical conditions in which there is a history of maternal alcohol exposure, *) **,***) and where clinical or animal research has linked matemal alcohol ingestion to an observed outcome, There are two categories, which may co-occur. If both diagnoses are present, then both diagnoses should be rendered: 4. Alcohol-related birth defects (ARBD) List of congenital anomalies, including malformations and dysplasias Cardiac Atrial septal defects Ventricular septal defects Skeletal Hypoplastic nails Shortened fifth digits Radioulnar synostosis Flexion contractures Camptodactyly Renal Aplastic, dysplastic, hypoplastic kidneys Horseshoe kidneys Ocular Strabismus Retinal vascular anomalies Auditory Conductive hearing loss Aberrant great vessels Tetralogy of Fallot Clinodactyly Pectus excavatum and carinatum Klippel-Feil syndrome Hemivertebrae Scoliosis Ureteral duplications Hydronephrosis Refractive problems secondary to small globes Neurosensory hearing loss Other Virtually every malformation has been described in some patient with FAS. The etiologic specificity of most of these anomalies to alcohol teratogenesis remains uncertain. 5. Alcohol-related ncurodevelopmental disorder (ARND) Presence of: A Evidence of CNS neurodevelopmental abnormalities, as in any of the following: - decreased cranial size at birth - structural brain abnormalities (e.g., microcephaly, partial or complete agenesis of the corpus callosum, cerebellar hypo- plasia) - neurological hard or soft signs (as age appropriate), such as impaired fme motor skills, neurosensory hearing loss, poor tan- dem gait, poor eye-hand coordination and/or: B Evidence of a complex pattem of behavior or cognitive abnormalities that are inconsistent with developmental level and can- not be explained by familial background or environment alone, such as leaming difficulties; deficits in school performance; poor impulse control; problems in social perception; deficits in higher Ievel receptive and expressive language; poor capacity for abstraction or metacognition; specific deficits in mathematical skills; or problems in memory, attention, or judgment *) Adopted from Institute of Medicine 1996 (8). **) A pattem of excessive intake characterized by substantial, regular intake or heavy episodic drinking. Evidence of this pattem may include frequent episodes of intoxication, development of tolerance or withdrawal, social problems related to drinking, legal problems related to drinking, engaging in physically hazardous behavior while drinking, or alcohol-related medical problems such as hepatic disease. ***) As further research is completed and as, or if, lower quantities or variable pattems of alcohol use are associated with ARBD or ARND, these pattems of alcohol use should be incorporated into the diagnostic criteria. 1. Einkenni um sérstakt mynstur vansköpunar í andliti eins og stuttar augnrifur, þunna og flata (skorulausa) efri vör og flatt miðandlit. 2. Einkenni um vaxtarseinkun, sem kemur fram í lækkaðri fæðingarþyngd miðað við með- göngulengd, litla þyngdaraukningu yfir tíma án þess að um næringarskort sé að ræða og tiltölulega litla þyngd miðað við hæð. 3. Einkenni um óeðlilegan þroska miðtauga- kerfisins eins og sýnir sig til dæmis með höf- uðsmæð við fæðingu, heilasmæð, stundum vantar hvelatengslin (corpus callosum) alveg eða að hluta og litli heili (cerebellum) er stundum rýr. Einnig getur verið um að ræða skertar fínhreyfingar, heyrnarskerðingu, lé- legt hæll í tá göngulag (tandem gait) og lé- lega samhæfingu sjónar og handa.
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