Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder

Baker, Kylie; Rees, Mark I.; Thompson, Peter; Howell, Rod; Cole, Trevor; Hughes, Helen E.; Upadhyaya, Meena; Ravine, David

doi:10.1136/jmg.38.7.493

Cited by 13 publications

(12 citation statements)

References 15 publications

(8 reference statements)

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“…[8] The signs of ADHD, for example hyperactivity or attention deficit, have been reported in diseases characterized by joint laxity in case reports. [19,20] In literature, there are several publications about musculoskeletal disorders, which accompany ADHD, but no study was found evaluating the frequency of joint hypermobility in patients with ADHD. To our knowledge, this is the first report on the relationship between ADHD and BJHS.…”

Section: Discussionmentioning

confidence: 99%

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Benign Joint Hypermobility Syndrome in Patients with Attention Deficit/Hyperactivity Disorders

Doğan¹

2011

Turk J Rheumatol

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Bu çalışmada dikkat eksikliği/hiperaktivite bozukluğuna (DEHB) benign eklem hipermobilite sendromunun (BEHS) eşlik edip etmediği belirlendi ve DEHB'li hastalarda BEHS'nin insidansı değerlendirildi. Hastalar ve yöntemler: Bu çalışma Kasım 2007-Şubat 2008 tarihleri arasında Ufuk Üniversitesi Tıp Fakültesi Fiziksel Tıp ve Rehabilitasyon ve Psikiyatri Anabilim Dallarınca yapılmıştır. Elli dört DEHB'li hasta (45 erkek 9 kız; ort. yaş 9.7±2.2 yıl; dağılım 7-12 yıl) ve 36 sağlıklı kontrol (19 erkek, 17 kız; ort. yaş ve 9.8±2.3 yıl; dağılım 7-12 yıl) çalışmaya dahil edildi. Bireylerin sosyodemografik ve klinik özellikleri ile son bir aydaki eklem ağrısı şiddeti kaydedildi. Ağrı şiddeti Revize-Yüz Ağrı Skalası ve Likert Ağrı Skalası ile değerlendirildi. Eklem hipermobilitesi Beighton skorları ile değerlendirildi. Bulgular: Benign eklem hipermobilite sendromu DEHB'li hastalarda %31.5, kontrol grubundaki bireylerde ise %13.9 oranında saptandı ve bu farklılık istatistiksel olarak anlamlı idi (p=0.05). Revize-Yüz Ağrı Skalası ve Likert Ağrı Skalası skorlarında gruplar arasında istatistiksel olarak anlamlı farklılıklar yoktu (p>0.05). Dikkat eksikliği/ hiperaktivite bozukluğu olan hastalarda kontrol grubuna kıyasla Beighton total skorunda istatistiksel olarak anlamlı bir artış gözlendi (p=0.004). Sonuç: Bu çalışmanın bulguları eklem hipermobilitesinin DEHB ile ilişkili olabileceğini desteklemektedir ve DEHB'li hastaların kas iskelet sistemi ile ilişkili yakınmaları değerlendirilirken bu durumun göz önünde bulundurulması gerekmektedir. Anahtar sözcükler: Hiperaktivite; hipermobilite; eklem; ağrı. Objectives: In this study, we determined whether attention deficit/hyperactivity disorder (ADHD) is accompanied by benign joint hypermobility syndrome (BJHS) and evaluated the incidence of BJHS in patients with ADHD.

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Section: Discussionmentioning

confidence: 99%

“…[5,7] Also, signs of ADHD have been reported in disorders associated with joint laxity. [18][19][20][21] The aim of this study was to determine whether ADHD is accompanied by BJHS and to evaluate the incidence of BJHS in patients with ADHD. [22,23] The DSM-IV has specific criteria that is required for diagnosis.…”

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confidence: 99%

Benign Joint Hypermobility Syndrome in Patients with Attention Deficit/Hyperactivity Disorders

Doğan¹

2011

Turk J Rheumatol

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“…Only a few reports have been published concerning the proximal interstitial deletion in chromosome 2q [Lucas et al, 1987;Frydman et al, 1989;Davis et al, 1991;Baker et al, 2001;Peng et al, 2006]. Some of the reported manifestations are developmental delay, defects of the corpus callosum, microcephaly, prominence of the forehead, low-set and malformed ears, and cardiac anomalies.…”

Section: Discussionmentioning

confidence: 99%

Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break Rearrangement

Manolakos¹,

Vetro

Papadopoulou

et al. 2013

Cytogenet Genome Res

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We report on a 26-month-old boy with an interstitial duplication of 2p22.3p22.2 and an interstitial deletion of 2q14.1q21.2. The abnormality was derived from his father having a balanced paracentric inversion and pericentric insertion. The deletion in the child was identified by cytogenetic analysis and characterized in more detail by molecular cytogenetics and array comparative genomic hybridization. The latter revealed a 20-Mb deletion in the long arm and a 5.6-Mb duplication in the short arm of chromosome 2. Fluorescence in situ hybridization in paternal chromosomes characterized an intrachromosomal insertion of 2q14.1q21.2 into 2p23; additionally a paracentric inversion of 2p13p23 was observed. The boy with the unbalanced karyotype suffered from severe psychomotor retardation, thrombophilia due to protein C deficiency, and hypertrophic cardiomyopathy and also had phenotypic abnormalities. Most of these features have previously been described in individuals with interstitial deletion of 2q14.1.

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“…There were numerous case reports and uncontrolled cohort studies looking at ADHD and specific populations of children with cytogenetic abnormalities [7][8][9][10][11][12][13][14][15] (see table 2). …”

Section: Commentarymentioning

confidence: 99%

Should children with ADHD and normal intelligence be routinely screened for underlying cytogenetic abnormalities?

Stephen

Kindley²

2006

Archives of Disease in Childhood

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Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder

Cited by 13 publications

References 15 publications

Benign Joint Hypermobility Syndrome in Patients with Attention Deficit/Hyperactivity Disorders

Benign Joint Hypermobility Syndrome in Patients with Attention Deficit/Hyperactivity Disorders

Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break Rearrangement

Should children with ADHD and normal intelligence be routinely screened for underlying cytogenetic abnormalities?

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