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PubMed2002

Genetic testing and risk assessment for spinal muscular atrophy (SMA).

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately 1 in 10,000 live births, and with a carrier frequency of approximately 1 in 50. Because of gene deletion or conversion, SMN1 exon 7 is homozygously absent in approximately 94% of patients with clinically typical SMA. Approximately 30 small intragenic SMN1 mutations have also been described. These mutations are present in many of the approximately 6% of SMA patients who do not lack both copies of SMN1, whereas SMA of other patients without a homozygous absence of SMN1 is unrelated to SMN1. A commonly used polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP) assay can be used to detect a homozygous absence of SMN1 exon 7. SMN gene dosage analyses, which can determine the copy numbers of SMN1 and SMN2 (an SMN1 homolog and a modifier for SMA), have been developed for SMA carrier testing and to confirm that SMN1 is heterozygously absent in symptomatic individuals who do not lack both copies of SMN1. In conjunction with SMN gene dosage analysis, linkage analysis remains an important component of SMA genetic testing in certain circumstances. Genetic risk assessment is an essential and integral component of SMA genetic testing and impacts genetic counseling both before and after genetic testing is performed. Comprehensive SMA genetic testing, comprising PCR-RFLP assay, SMN gene dosage analysis, and linkage analysis, combined with appropriate genetic risk assessment and genetic counseling, offers the most complete evaluation of SMA patients and their families at this time. New technologies, such as haploid analysis techniques, may be widely available in the future.

Arthrogryposis↗
PubMed1991

A dominant-hereditary variation of the Pena-Shokeir syndrome; a case report.

Four children with the Pena-Shokeir syndrome are described. Apart from the classical manifestations of the syndrome: camptodactyly, ankyloses, facial anomalies, pulmonary hypoplasia, all four children had an extremely rigid skin. Possibly this rigidness of unknown origin led in these cases to fetal akinesia, which seems to be the explanation of the clinical manifestations of the syndrome. All children were born to one man, three in his first marriage, one in his second. Therefore this case report almost certainly presents a dominant-hereditary variation of the syndrome.

Abnormalities, Multiple↗
PubMed1975

The C.C.A. syndrome (congenital contractural arachnodactyly): a new differential syndrome for Marfan's syndrome and homocystinuria.

The first case in the dental literature of congenital contractural arachnodactyly (C.C.A. syndrome) is presented. This newly delineated syndrome is an autosomal dominant heritable disorder of connective tissue. Its similarities to Marfan's syndrome and homocystinuria, as well as other syndromes, are discussed. The lack of cardiovascular disease, specific ocular anomalies, and mental retardation are presented in the differential diagnosis of the C.C.A syndrome with Marfan's syndrome and homocystinuria.

Arthrogryposis↗
PubMed1995

Pelvic kidney: a rare cause of obstetrical obstruction.

This case report presents a patient with a pelvic kidney. The child was delivered by caesarean section because of obstruction of the birthcanal. A relation with amyoplasia congenita in the newborn is presumed. The literature of the pelvic kidney and its implications in pregnancy is reviewed.

Adult↗
PubMedDate not supplied

Mistaken diagnoses in continuous muscle fiber activity of peripheral nerve origin.

The syndrome of continuous muscle fiber activity of peripheral nerve origin has manifestations that resemble those of many other more common neurologic disorders during childhood and infancy. This similarity often leads to misdiagnosis when an adequate index of suspicion is not entertained and a comprehensive electromyographic examination is not performed. Two affected patients from 1 family are reported to illustrate the type of diagnostic errors that were made before the establishment of the correct diagnosis.

Arthrogryposis↗
PubMed2006

Analysis of narratives produced by four children who use augmentative and alternative communication.

UNLABELLED: The ability to narrate a story is fundamental to the development of overall communicative competence and involves the coordination of a variety of knowledge structures and linguistic abilities. In this study, the narrative discourse abilities of four children who use AAC are described in the context of five tasks designed to elicit a spectrum of narrative skills. Assessment was achieved through application of the Narrative Assessment Profile tool [Bliss, L. S., McCabe, A., & Miranda A. E. (1998). Narrative assessment profile: Discourse analysis for school-age children. Journal of Communication Disorders, 31, 347-362.] and analysis of seven major story elements. Our results indicate that most narrative discourse dimensions in our participating children appeared to be compromised and in need of intervention. Discussion includes aspects of narrative intervention and suggested topics for further research. LEARNING OUTCOMES: The reader will be able to: (1) create a list of issues involved in the development of narrative abilities of children who depend on augmentative and alternative communication systems (AAC) and (2) describe the issues involved in assessing the narrative skills of children who use AAC.

Arthrogryposis↗
PubMed2006

A pedigree-analysis approach to the descriptive epidemiology of autosomal-recessive disorders.

We describe a pedigree-analysis approach to estimating descriptive epidemiological parameters for autosomal-recessive disorders when the ancestral source of the disorder is known. We show that the expected frequency of carriers in a cohort equals the gene contribution of the ancestral source to that cohort, which is equivalent to the direct (additive) genetic relationship of that ancestor to the cohort. Also, the expected incidence of affected foetuses ranges from (1/2)F* to F*, where F* is the mean partial inbreeding coefficient (due to the ancestor) of the cohort. We applied this approach to complex vertebral malformation (CVM) in Holstein-Friesians in Australia, for which the ancestral source is a USA-born bull, Carlin-M Ivanhoe Bell. The estimated frequency of carriers was 2.47% for the 1992-born and 4.44% for the 1997-born cohort of Holstein-Friesian cows in Australia. The estimated incidence of affected foetuses/calves was considerably less than one per thousand, ranging from 0.0024 to 0.0048% for the 1992-born cohort, and from 0.0288 to 0.0576% for the 1997-born cohort. These incidences correspond to expected numbers of affected female foetuses/calves ranging from 2 to 4 for the 1992-born cohort and from 28 to 56 for the 1997-born cohort. This approach is easy to implement using software that is readily available.

Animals↗
PubMed1999

Powered feeding devices: an evaluation of three models.

OBJECTIVE: To evaluate and compare three powered feeding devices (Beeson, Handy 1, Winsford) as perceived by disabled individuals who require assistance with eating. DESIGN: Subjects and assistants were surveyed after using each device and serving their own controls. The order in which the devices were used was balanced. SETTING: Place of subjects' residence. SUBJECTS: Twelve subjects, ages 11 to 42 years, and their feeding assistants. INTERVENTION: Each device trial covered a 4-day period. Day 1 focused on training to use the device, Days 2 and 3 focused on using the device at home, and on Day 4 subjects returned to the laboratory for debriefing, completing questionnaires, and videotaping. MAIN OUTCOME MEASURE: Subjects and assistants answered questionnaires including Likert-like rankings and yes/no responses regarding functional and esthetic characteristics of each feeding device. RESULTS: Significant differences were found among three powered feeding devices regarding specific design characteristic. Great percentages of both subjects and their feeding assistants responded that the devices were an improvement over how they were currently being fed and that they would use such a device on a daily basis. CONCLUSION: Individuals dependent on others for feeding may benefit from the use of a powered feeding device.

Activities of Daily Living↗