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Background Zellweger spectrum disorder is an autosomal recessively inherited multisystem disorder caused by one of the 13 different PEX gene defects resulting in defective peroxisomal assembly and multiple peroxisomal enzyme deficiencies. We report a new patient with late-onset Zellweger spectrum disorder mimicking X-linked adrenoleukodystrophy. Patient Description This 8.5-year-old boy with normal development until 6.5 years of age presented with bilateral sensorineural hearing loss during a school hearing test. He then developed acute-onset diplopia, clumsiness, and cognitive dysfunction at age 7 years. Magnetic resonance imaging of the brain revealed symmetric leukodystrophy, although without gadolinium enhancement. Elevated plasma very long chain fatty acid levels were suggestive of X-linked adrenoleukodystrophy, but his ABCD1 gene had normal coding sequence and dosage. Additional studies of cultured skin fibroblasts were consistent with Zellweger spectrum disorder. Molecular testing identified disease-causing compound heterozygous mutations in the PEX6 gene supporting the Zellweger spectrum disorder diagnosis in this patient. Conclusions We describe a new patient with late-onset Zellweger spectrum disorder caused by PEX6 mutations who presented with an acute neurodegenerative disease course mimicking X-linked adrenoleukodystrophy. This finding provides an additional reason that molecular confirmation is important for the genetic counseling and management of patients with a clinical and biochemical diagnosis of X-linked adrenoleukodystrophy. [ABSTRACT FROM AUTHOR]

Abstract: Objectives: To examine the process of genetic counseling with the aim of observing how participants negotiate a common understanding in light of the inherent power asymmetry of a genetics health care encounter. Methods: Data from ten sessions between genetic counselors and parents of children with a genetic diagnosis were taped. Transcripts were examined using a qualitative discourse analysis approach focusing on communication features such as question design, topic initiation and control, and lexical or discourse features which could give insights into rapport building strategies. Results: Counselors tightly controlled the medical history phase in all sessions and verbally dominated the scientific information phase. More symmetric communication occurred when: (i) counselors showed flexibility with their agenda and gave parents the opportunity to share their health experience; (ii) counselors showed signs of involvement through the use of ‘rapport building’ strategies; (iii) counselors used a syllogistic approach and information was delivered at a slower pace. Conclusion: Observations from this study suggest that, when counselors focus on building rapport with parents, the human voice of the parent emerges. Examples of rapport building strategies by the counselors included adapting to the parents’ variations in knowledge, recognizing the needs of the parents, verifying their understanding, and choosing a more interactive approach to the delivery of information. Practice implications: Our findings suggest that for effective communication to occur, parents need to be provided with opportunities to be active participants in the genetic counseling encounter. [Copyright &y& Elsevier]