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Biomedical subjects

Kerstin Strömland

Publications and source records attributed to Kerstin Strömland.

11 recordsLinked to original sources
PubMed2006

Autism spectrum disorders and underlying brain pathology in CHARGE association.

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.

Abnormalities, Multiple↗
PubMed2006

Health before and after adoption from Eastern Europe.

DESIGN: A population-based study of pre-adoption, arrival and post-adoption health. AIM: To report prenatal and postnatal background factors, morbidity, growth and development in adoptees from Eastern Europe. SUBJECTS AND METHODS: All 99 children born in Eastern Europe between 1990 and 1995 and adopted to western Sweden during 1993-1997 were invited to participate in the study. Altogether, 76 (77%) participated. Medical records from the birth countries, from the examination at arrival and from medical reports made during a mean post-adoption period of 5 years were evaluated. RESULTS: Low birth weight (< or = 2500 g) occurred in 48%. Congenital malformations were found in 22%. The biological mothers of 33% of the children had been considered alcoholics, and 16% of the children's mothers had been diagnosed with a psychiatric disability. A high incidence of infectious diseases, neurodevelopment disorders and growth retardation had been noted during the pre-adoption period. Upon arrival in Sweden 75% were diagnosed with a medical condition, most often an infection. After a 5-year post-adoption period, small head circumference was associated with alcohol exposure during pregnancy and 46% had at least one neurodevelopment or behavioural disorder. CONCLUSION: Adverse prenatal and perinatal factors, congenital malformations and post-adoption neurodevelopment disorders were common. Adoptees and adopters have complex needs for health support and information.

Adoption↗
PubMed2006

Ophthalmological findings in children born after intracytoplasmic sperm injection.

PURPOSE: To investigate visual function and ocular morphology in children born after intracytoplasmic sperm injection (ICSI) and compare them with visual function and ocular morphology in matched children born after spontaneous conception. METHODS: A total of 137 children born after ICSI and 159 control children were examined at the age of 5 years in a blinded study. The two groups were matched for age, gender and maternal age. The children underwent a detailed ophthalmological investigation by an ophthalmologist and an orthoptist. RESULTS: A total of 90.4% of the ICSI children had a visual acuity (VA) in the better eye of >or= 0.8, compared with 93.7% of the controls (NS). No significant differences were found between ICSI children and controls with regard to hyperopia, myopia, astigmatism, heterotropia, stereoscopic vision and convergence. One child with Goldenhar syndrome and one with Marcus Gunn syndrome were observed in the ICSI group. One child in the ICSI group was treated for retinopathy of prematurity. CONCLUSION: In this limited study group, no significant differences in visual function and/or ocular morphology were found between children born after ICSI and matched control children at the age of 5 years.

Case-Control Studies↗
PubMed2005

CHARGE association in Sweden: malformations and functional deficits.

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.

Abnormalities, Multiple↗
PubMed2004

Visual impairment and ocular abnormalities in children with fetal alcohol syndrome.

Children with fetal alcohol syndrome (FAS) may have impaired vision and various ocular abnormalities. All parts of the eye may be affected and anomalies such as microphthalmus, microcornea, Peters' anomaly, cataract, persistent hyperplastic primary hyaloid vitreous body, coloboma of the iris and choroid, retinal dysplasia and, most commonly, optic nerve hypoplasia and tortuosity of the retinal vessels, have been reported. The periocular facial features consist of short palpebral fissures (included in the criteria for diagnosis of FAS), telecanthus, epicanthus and blepharoptosis. Visual function may be reduced to a moderate or severe degree. Refractive errors and strabismus are common. Considering the high frequency of ocular pathology in FAS, an ophthalmological examination is helpful in making the diagnosis. The early detection of impaired vision and ocular abnormalities in affected children is important in the management of the disorder. In this article, the ophthalmological signs and symptoms in children with FAS are presented.

Child↗
PubMed2004

Autism with ophthalmologic malformations: the plot thickens.

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.

Abnormalities, Drug-Induced↗
PubMed2002

Offspring of male and female parents with thalidomide embryopathy: birth defects and functional anomalies.

BACKGROUND: The aim of the study was to evaluate congenital malformations and functional anomalies in the offspring of Swedish parents with thalidomide embryopathy (TE). METHODS: Sixty-four children (29 girls, 35 boys) with ages ranging from 0-18 years, born to 34 Swedish parents (14 women, 20 men) with TE, were studied. Data on malformations and dysfunction were collected from medical records at maternity and child healthcare units, delivery units, hospitals, outpatient clinics and schools. RESULTS: Five children had both a mother and father with TE, 23 had a mother suffering from TE, and in 36 children the father had TE. One girl had a major malformation consisting of pulmonary stenosis, and single cases of minor physical features and positional deformities were observed. One boy had autism. Four children were born preterm, all to a TE mother. One child died within 24 hr after birth. Seven spontaneous abortions were registered, five of them in TE mothers. The cesarian section rate was 39% among the TE mothers, compared to 14% among the non-TE mothers. CONCLUSIONS: Malformations or functional anomalies similar to those typical for TE were not found in this group of children born to Swedish parents with TE. Cesarian sections were more frequently performed in TE mothers, partly because of pelvic and uterine malformations.

Abnormalities, Drug-Induced↗
PubMed2002

Mobius sequence--a Swedish multidiscipline study.

Mobius sequence/syndrome is a rare disorder characterized by congenital palsy of the 6th and 7th cranial nerves. Other cranial nerves may be affected, skeletal and orofacial anomalies and mental retardation occur. The aims were to determine the frequency of associated clinical characteristics and to identify any pregnancy or environmental factors in patients with Mobius sequence. A prospective study of 25 Swedes with apparent involvement of the 6th and 7th cranial nerves was performed and 25 patients, 1 month to 55 years old, were examined. Obvious associated systemic anomalies observed included: limb malformations (10), Poland anomaly (2), hypodontia (7), microglossia (6), cleft palate (4), hearing impairment (5) and external ear malformation (1). Pronounced functional abnormalities were observed involving facial expression (16), speech (13), eating and swallowing (12) and difficulty in sucking in infancy (11). Six patients had an autistic syndrome, one an autistic-like condition, and mental retardation was found in all these patients. No common aetiological cause was found but their mothers' pregnancy histories revealed a history of benzodiazepines (1), bleeding during pregnancy (8), spontaneous abortion (7) and chorion villus sampling in the second month of pregnancy (1). In conclusion, many patients had multiple problems with eating and communication resulting from facial palsy, cleft palate and tongue anomalies. Autism and mental retardation was diagnosed in one-third of the patients. Awareness of the wide spectrum of manifestations in Mobius sequence will assist in identification of the associated malformations and functional problems that are often seen and result in better care of the children.

Abducens Nerve Diseases↗
PubMedDate not supplied

Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review.

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.

Abnormalities, Multiple↗
PubMedDate not supplied

Ophthalmic involvement in the fetal alcohol syndrome: clinical and animal model studies.

The fetal alcohol syndrome (FAS) is caused by maternal alcohol misuse during pregnancy and is characterized by pre- and postnatal growth retardation, central nervous system anomalies and a wide spectrum of malformations, the most typical being the craniofacial features. The eye is a sensitive indicator of the adverse effects of environmental agents, and the ocular abnormalities observed in children with FAS indicate that the developing eye is particularly affected by alcohol. The external signs include short palpebral fissures, telecanthus, epicanthus, blepharoptosis, microphthalmos and strabismus. Within the eyes, the signs and symptoms most commonly detected are optic nerve hypoplasia, increased tortuosity of the retinal vessels and impaired vision. Experimental models of FAS, closely reproducing characteristics of human FAS, have contributed to our understanding of the cellular and molecular basis of the action of alcohol in the developing visual system. As there is such a high frequency of eye signs and symptoms in FAS, an ophthalmological examination is important when making the diagnosis, as well as in the management of the disorder. Current knowledge of ophthalmological involvement in FAS in humans is presented, as well as a review of findings using animal models specially designed for studying ocular developmental changes induced by alcohol.

Animals↗