American Journal of Medical Genetics Part A

Hiraki, Susan; Ormond, Kelly E.; Kim, Katherine; Ross, Lainie Friedman

doi: 10.1002/ajmg.a.31485pmid: 17036312

There is movement to expand newborn screening (NBS) to include conditions that challenge the traditional public health screening criteria. Little is known about the attitudes of genetic counselors towards expanding NBS and offering predictive genetic tests to children. For our study genetic counselors completed an internet survey posted on the National Society of Genetic Counselors Listserv regarding five conditions: cystic fibrosis (CF), Duchenne muscular dystrophy (DMD), glucose‐6‐phosphate dehydrogenase deficiency (G6PD), fragile X (FraX), and type 1 diabetes (T1D). The survey addressed attitudes towards: (1) testing high‐risk infants; (2) mandatory NBS; (3) population screening beyond the newborn period; and (4) testing one's own child. Two hundred sixty‐seven usable surveys were received. Over two‐thirds of respondents supported testing high‐risk infants for all conditions except T1D (22%). CF was the only condition for which there was majority support for both mandatory NBS (56%) and later population screening (60%). For all other conditions, later population screening was preferred over NBS (P ≤ 0.01). Genetic counselors were most likely to test their own child for CF (46%) and least likely to test their own child for T1D (6%). For each condition, genetic counselors were more likely to support NBS if they chose to screen their own newborn (P < 0.001). Attitudes towards NBS were not influenced by year of graduation or professional experience. We can conclude that genetic counselors are supportive of targeted testing of high‐risk infants. They prefer voluntary population screening with consent to mandatory NBS for conditions that challenge Wilson and Jungner criteria. Their support for NBS correlates with their interest in testing their own children and not with professional experience. © 2006 Wiley‐Liss, Inc.

Sullivan, Kelly; Hatton, Deborah; Hammer, Julie; Sideris, John; Hooper, Stephen; Ornstein, Peter; Bailey, Donald

doi: 10.1002/ajmg.a.31388pmid: 17022076

Parent‐ and teacher‐report of attention‐deficit/hyperactivity disorder (ADHD) symptoms were examined using problem behavior and DSM‐IV symptom inventory questionnaires for 63 children with full mutation fragile X syndrome (FXS) and 56 children without disabilities matched on mental age (MA). Prevalence rates of ADHD symptoms varied depending on type of measure (problem behavior or DSM‐IV criteria), subscale (ADHD‐inattentive or ADHD‐hyperactive), scoring method (continuous T‐scores or categorical scores based on DSM‐IV algorithm), and rater (parent or teacher). Overall, 54–59% of boys with FXS met diagnostic behavioral criteria for either ADHD‐inattentive type only, ADHD‐hyperactive type only, or ADHD‐combined type based on parent or teacher report. Boys with FXS were rated as having clinically high scores or met diagnostic criteria at higher rates than expected for the general population and had higher raw scores than their MA‐matched peers. Parent ratings of boys with FXS resulted in higher ADHD‐inattentive type and ADHD‐hyperactive type T‐scores than teachers. Boys who were rated as meeting DSM‐IV criteria were more likely to be taking psychotropic medication and to have younger mental ages. Parents were substantially more likely than teachers to rate boys as meeting DSM‐IV criteria for ADHD‐inattentive type, while teachers were only slightly more likely than parents to rate boys as meeting DSM‐IV criteria for ADHD‐hyperactive type. Teachers were more likely than parents to rate boys as meeting DSM‐IV criteria for ADHD when boys had lower levels of FMRP. © 2006 Wiley‐Liss, Inc.

Stanisławska‐Sachadyn, Anna; Jensen, Liselotte E.; Kealey, Carmel; Woodside, Jayne V.; Young, Ian S.; Scott, John M.; Murray, Liam; Boreham, Colin A.; McNulty, Helene; Strain, J.J.; Whitehead, Alexander S.

doi: 10.1002/ajmg.a.31475

Lainhart, Janet E.; Bigler, Erin D.; Bocian, Maureen; Coon, Hilary; Dinh, Elena; Dawson, Geraldine; Deutsch, Curtis K.; Dunn, Michelle; Estes, Annette; Tager‐Flusberg, Helen; Folstein, Susan; Hepburn, Susan; Hyman, Susan; McMahon, William; Minshew, Nancy;

Zaffanello, Marco; Diomedi‐Camassei, Francesca; Melzi, Maria Luisa; Torre, Giuliano; Callea, Francesco; Emma, Francesco

doi: 10.1002/ajmg.a.31464pmid: 17022080

Cranioectodermal dysplasia (CED, Sensenbrenner syndrome; OMIM #218330) is an autosomal recessive disorder reported only in 15 cases, which is characterized by dolichocephaly, rhizomelic dwarfism, dental and nail dysplasia, and progressive tubulo‐interstitial nephritis (TIN) leading to end‐stage renal failure. Herein, we describe a new patient with cranio‐ectodermal dysplasia. Unlike previously reported cases, this 4‐year‐old child presented with tubulo‐interstitial nephropathy associated with liver cystic disease and elevated liver enzymes. The liver biopsy demonstrated congenital hepatic fibrosis secondary to ductal plate malformation. The coexistence of a chronic tubulo‐interstitial renal disease with lesions associated to malformations of the hepatic ductal plate indicates that CED as a new member of the congenital hepatorenal fibrocystic syndromes. © 2006 Wiley‐Liss, Inc.

Uematsu, Mitsugu; Sakamoto, Osamu; Nishio, Toshiyuki; Ohura, Toshihiro; Matsuda, Tadashi; Inagaki, Tetsuji; Abe, Takaaki; Okamura, Kunihiro; Kondo, Yoshiaki; Tsuchiya, Shigeru

doi: 10.1002/ajmg.a.31448pmid:

Debray, François‐Guillaume; Drouin, Eric; Herzog, Denise; Lortie, Anne; Lambert, Marie; Garel, Laurent; Mitchell, Grant. A.; Michaud, Jacques L.

doi: 10.1002/ajmg.a.31457pmid: 17022070

Diabetes mellitus and exocrine insufficiency are the commonest pancreatic manifestations of mitochondrial diseases. In contrast, pancreatitis has rarely been described in mitochondrial syndromes. We report on a patient with Kearns‐Sayre syndrome and recurrent episodes of acute pancreatitis for which no explanation could be found other than the associated mitochondrial dysfunction. Interestingly, pharmacological disruption of mitochondrial metabolism in various models as well as in patients can cause pancreatitis, further supporting this association. A diagnosis of pancreatitis should be considered in any patients with mitochondrial disease and recurrent abdominal pain. © 2006 Wiley‐Liss, Inc.

Opitz, John M.; Burn, John

doi: 10.1002/ajmg.a.31476pmid: 17022074

Maurin, M‐L.; Brisset, S.; Le Lorc'h, M.; Poncet, V.; Trioche, P.; Aboura, A.; Labrune, P.; Tachdjian, G.

doi: 10.1002/ajmg.a.31438pmid: 17022077

We report on a female infant presenting with psychomotor retardation and facial dysmorphism. Cytogenetic studies showed an abnormal chromosome 14 with ectopic NOR sequences at the extremity of the long arm with a terminal 14q32.33 deletion. Review of the eight cases with pure terminal 14q32.3 deletions described to date documented that our observation is the smallest terminal 14q deletion ever reported. Thus, genotype–phenotype correlation allows us to delimit the critical region for mental retardation, hypotonia, epi‐telecanthus, short bulbous nose, long philtrum, thin upper lip, and small mouth observed in 14 qter deletions to the subtelomeric 1.6 Mb of chromosome 14. © 2006 Wiley‐Liss, Inc.

Opitz, John M.

doi: 10.1002/ajmg.a.31458pmid: N/A