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Rett syndrome, zappella variant

MedGen UID:
393807
•Concept ID:
C2677682
•
Disease or Syndrome
Synonym: Rett Syndrome, Zappella Variant
 
OMIM®: 300005; 312750

Professional guidelines

PubMed

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).
Renieri A, Mari F, Mencarelli MA, Scala E, Ariani F, Longo I, Meloni I, Cevenini G, Pini G, Hayek G, Zappella M
Brain Dev 2009 Mar;31(3):208-16. Epub 2008 Jun 17 doi: 10.1016/j.braindev.2008.04.007. PMID: 18562141

Recent clinical studies

Etiology

Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.
Pini G, Bigoni S, Engerström IW, Calabrese O, Felloni B, Scusa MF, Di Marco P, Borelli P, Bonuccelli U, Julu PO, Nielsen JB, Morin B, Hansen S, Gobbi G, Visconti P, Pintaudi M, Edvige V, Romanelli A, Bianchi F, Casarano M, Battini R, Cioni G, Ariani F, Renieri A, Benincasa A, Delamont RS, Zappella M; ESRRA group
Neuropediatrics 2012 Feb;43(1):37-43. Epub 2012 Mar 19 doi: 10.1055/s-0032-1308856. PMID: 22430159
EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome.
Buoni S, Zannolli R, De Felice C, De Nicola A, Guerri V, Guerra B, Casali S, Pucci B, Corbini L, Mari F, Renieri A, Zappella M, Hayek J
Clin Neurophysiol 2010 May;121(5):652-7. Epub 2010 Feb 12 doi: 10.1016/j.clinph.2010.01.003. PMID: 20153689
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).
Renieri A, Mari F, Mencarelli MA, Scala E, Ariani F, Longo I, Meloni I, Cevenini G, Pini G, Hayek G, Zappella M
Brain Dev 2009 Mar;31(3):208-16. Epub 2008 Jun 17 doi: 10.1016/j.braindev.2008.04.007. PMID: 18562141
Rett syndrome and plasma leptin levels.
Blardi P, de Lalla A, D'Ambrogio T, Zappella M, Cevenini G, Ceccatelli L, Auteri A, Hayek J
J Pediatr 2007 Jan;150(1):37-9. doi: 10.1016/j.jpeds.2006.10.061. PMID: 17188610
Developmental profile of serum nerve growth factor levels in Rett complex.
Calamandrei G, Aloe L, Hajek J, Zappella M
Ann Ist Super Sanita 2001;37(4):601-5. PMID: 12046231

Diagnosis

Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.
Pini G, Bigoni S, Engerström IW, Calabrese O, Felloni B, Scusa MF, Di Marco P, Borelli P, Bonuccelli U, Julu PO, Nielsen JB, Morin B, Hansen S, Gobbi G, Visconti P, Pintaudi M, Edvige V, Romanelli A, Bianchi F, Casarano M, Battini R, Cioni G, Ariani F, Renieri A, Benincasa A, Delamont RS, Zappella M; ESRRA group
Neuropediatrics 2012 Feb;43(1):37-43. Epub 2012 Mar 19 doi: 10.1055/s-0032-1308856. PMID: 22430159
Rett syndrome: revised diagnostic criteria and nomenclature.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium
Ann Neurol 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. PMID: 21154482Free PMC Article
EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome.
Buoni S, Zannolli R, De Felice C, De Nicola A, Guerri V, Guerra B, Casali S, Pucci B, Corbini L, Mari F, Renieri A, Zappella M, Hayek J
Clin Neurophysiol 2010 May;121(5):652-7. Epub 2010 Feb 12 doi: 10.1016/j.clinph.2010.01.003. PMID: 20153689
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.
Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Dalla Bernardina B, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A
Brain Dev 2010 Jan;32(1):17-24. Epub 2009 Apr 10 doi: 10.1016/j.braindev.2009.02.004. PMID: 19362436
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).
Renieri A, Mari F, Mencarelli MA, Scala E, Ariani F, Longo I, Meloni I, Cevenini G, Pini G, Hayek G, Zappella M
Brain Dev 2009 Mar;31(3):208-16. Epub 2008 Jun 17 doi: 10.1016/j.braindev.2008.04.007. PMID: 18562141

Therapy

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.
Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Dalla Bernardina B, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A
Brain Dev 2010 Jan;32(1):17-24. Epub 2009 Apr 10 doi: 10.1016/j.braindev.2009.02.004. PMID: 19362436

Prognosis

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.
Grillo E, Lo Rizzo C, Bianciardi L, Bizzarri V, Baldassarri M, Spiga O, Furini S, De Felice C, Signorini C, Leoncini S, Pecorelli A, Ciccoli L, Mencarelli MA, Hayek J, Meloni I, Ariani F, Mari F, Renieri A
PLoS One 2013;8(2):e56599. Epub 2013 Feb 28 doi: 10.1371/journal.pone.0056599. PMID: 23468869Free PMC Article
Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant.
Marschik PB, Pini G, Bartl-Pokorny KD, Duckworth M, Gugatschka M, Vollmann R, Zappella M, Einspieler C
Dev Med Child Neurol 2012 May;54(5):451-6. Epub 2012 Feb 21 doi: 10.1111/j.1469-8749.2012.04123.x. PMID: 22348320
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.
Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Dalla Bernardina B, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A
Brain Dev 2010 Jan;32(1):17-24. Epub 2009 Apr 10 doi: 10.1016/j.braindev.2009.02.004. PMID: 19362436
Preserved speech variants of the Rett syndrome: molecular and clinical analysis.
Zappella M, Meloni I, Longo I, Hayek G, Renieri A
Am J Med Genet 2001 Nov 15;104(1):14-22. doi: 10.1002/ajmg.10005. PMID: 11746022
Preserved speech variant is allelic of classic Rett syndrome.
De Bona C, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R, Loffredo P, Longo I, Renieri A
Eur J Hum Genet 2000 May;8(5):325-30. doi: 10.1038/sj.ejhg.5200473. PMID: 10854091

Clinical prediction guides

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.
Grillo E, Lo Rizzo C, Bianciardi L, Bizzarri V, Baldassarri M, Spiga O, Furini S, De Felice C, Signorini C, Leoncini S, Pecorelli A, Ciccoli L, Mencarelli MA, Hayek J, Meloni I, Ariani F, Mari F, Renieri A
PLoS One 2013;8(2):e56599. Epub 2013 Feb 28 doi: 10.1371/journal.pone.0056599. PMID: 23468869Free PMC Article
EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome.
Buoni S, Zannolli R, De Felice C, De Nicola A, Guerri V, Guerra B, Casali S, Pucci B, Corbini L, Mari F, Renieri A, Zappella M, Hayek J
Clin Neurophysiol 2010 May;121(5):652-7. Epub 2010 Feb 12 doi: 10.1016/j.clinph.2010.01.003. PMID: 20153689
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.
Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Dalla Bernardina B, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A
Brain Dev 2010 Jan;32(1):17-24. Epub 2009 Apr 10 doi: 10.1016/j.braindev.2009.02.004. PMID: 19362436
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).
Renieri A, Mari F, Mencarelli MA, Scala E, Ariani F, Longo I, Meloni I, Cevenini G, Pini G, Hayek G, Zappella M
Brain Dev 2009 Mar;31(3):208-16. Epub 2008 Jun 17 doi: 10.1016/j.braindev.2008.04.007. PMID: 18562141
Developmental profile of serum nerve growth factor levels in Rett complex.
Calamandrei G, Aloe L, Hajek J, Zappella M
Ann Ist Super Sanita 2001;37(4):601-5. PMID: 12046231

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