Publications

Publications ESRRA Group 2005- 2013

Julu POO, Witt Engerström I, Hansen S, Aportopoulus F, Engerström, The ESRRA Group (2013). Treating hypoxia in a feeble breather with Rett syndrome. Brain and Development 2013, 35, 270-273

Bergström-Isacsson, M., Lagerkvist, B., Holck, U., & Gold, C. (2013). How facial expressions in a Rett syndrome population are recognised and interpreted by those around them as conveying emotions. Research in developmental disabilities, 34(2), 788-794.

Bergström-Isacsson, M. (2011). Music and Vibroacoustic Stimulation in People with Rett Syndrome–A Neurophysiological Study. Aalborg University Denmark.  

Bergström-Isacsson, M., Julu, P. O. O., & Witt Engerström, I. (2007). Autonomic responses to Music and Vibroacoustic Therapy in Rett Syndrome. Nordic Journal of Music Therapy, 16(1), 42-59.

Altered carbon dioxide metabolism and creatine abnormalities in Rett syndrome. Halbach NSJ, Smeets EEJ, Bierau J, Keularts IMLW, Plasqui G, Julu POO, Witt Engerström IW, Bakker JA, Curfs LMG. Journal of Inherited Metabolic Diseases 2012, 3, 117-124.

Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice. Halbach NS, Smeets EE, van den Braak N, van Roozendaal KE, Blok RM, Schrander-Stumpel CT, Frijns JP, Maaskant MA, Curfs LM. Am J Med Genet A. 2012 Feb;158A(2):340-50. Pub

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. Neuropediatrics. 2012 Feb;43(1):37-43.

IGF1 as a potential treatment for Rett Syndrome: safety assessment on six Rett patients. Pini G, Scusa MF, Felloni B, Congiu L, Benincasa A, Morescalchi P, Bottiglioni I, Di Marco P, Borelli P, Bonuccelli U, Della Chiesa A, Prina-Mello A, Tropea D. Autism: research and treatment 2012

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.  

Rett networked database: An integrated clinical and genetic network of rett syndrome databases. Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong J, Martinez AR, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Mejaški Bošnjak V, Polgár N, Cogliati F, Ravn K, Pintaudi M, Melegh B, Craiu D, Djukic A, Renieri A. Hum Mutat. 2012 Mar 13. [Epub ahead of print] 

Rett syndrome: a study of the face. Allanson JE, Hennekam RC, Moog U, Smeets EE. Am J Med Genet A. 2011 Jul;155A(7):1563-7.

Communication in Individuals with Rett Syndrome: an Assessment of Forms and Functions. Didden R, Korzilius H, Smeets E, Green VA, Lang R, Lancioni GE, Curfs LM. J Dev Phys Disabil. 2010 Apr;22(2):105-118.

Updating the profile of C-terminal MECP2 deletions in Rett syndrome. Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, Jacoby P, Anderson A, Pineda M, Ben Zeev B, Bahi-Buisson N, Smeets E, Leonard H. J Med Genet. 2010 Apr;47(4):242-8.

La Sindrome di Rett, interventi e prospettive. Pini G., in La Sindrome di Rett, risvolti clinici e sociali (M. Marapodi e M. Roccella eds.) Carbone Editore, Palermo 2010

La Variante Congenita della Sindrome di Rett: descrizione clinica e del sistema nervoso autonomico. Pini G, Bigoni S, Ferlini A, Carturan S, Baldi I, Felloni B, Scusa MF, Di Marco P, Julu P OO, Witt Engerström I, Hansen S, Apartopoulos F, Engerström B, Delamont R S, Smeets , E EJ, Curfs L , Berardinelli A, Orcesi S, Romanelli A, Bianchi F, Zappella M: Giornale di Neuropsichiatria dell' età evolutiva; 30: 3-8; 2010

Aspetti clinici generali. Veneselli E, Pini E in Sindrome di Rett:dalla diagnosi alla terapia (E.Veneselli, M. Pintaudi eds). AIR, 2010: 19-28.

Rett syndrome and long-term disorder profile. Smeets EE, Chenault M, Curfs LM, Schrander-Stumpel CT, Frijns JP. Am J Med Genet A. 2009 Feb;149A(2):199-205.

Guided eating or feeding: three girls with Rett syndrome. Qvarfordt I, Engerstrom IW, Eliasson AC. Scand J Occup Ther. 2009 Mar;16(1):33-9.

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.

Aging in people with specific genetic syndromes: Rett syndrome. Halbach NS, Smeets EE, Schrander-Stumpel CT, van Schrojenstein Lantman de Valk HH, Maaskant MA, Curfs LM. Am J Med Genet A. 2008 Aug 1;146A(15):1925-32.

Clinical update addressing the cardiorespiratory challenges in medicine posed by Rett Syndrome:THE FRӧSӧ DECLARATIONJulu POO, Witt Engerstrӧm I, Hansen S, Apartopoulos F, Engerstrӧm B, Pini G, Delamont RS, Smeets EJ. The Lancet 371:1981-1983; 2008

Cardiorespiratory challenges in Rett's syndrome. Julu PO, Engerström IW, Hansen S, Apartopoulos F, Engerström B, Pini G, Delamont RS, Smeets EE. Lancet. 2008 Jun 14;371(9629):1981-3

Management of a severe forceful breather with Rett syndrome using carbogen. Smeets EE, Julu PO, van Waardenburg D, Engerström IW, Hansen S, Apartopoulos F, Curfs LM, Schrander-Stumpel CT. Brain Dev. 2006 Nov;28(10):625-32.

Communication and eating proficiency in 125 females with Rett syndrome: The Swedish Rett Center Survey. Lavås J, Slotte A, Jochym-Nygren M, van Doorn J, Engerström IW. Disabil Rehabil. 2006 Oct 30;28(20):1267-79. 

The development of visual- and auditory processing in Rett syndrome: an ERP study. Stauder JE, Smeets EE, van Mil SG, Curfs LG. Brain Dev. 2006 Sep;28(8):487-94. 

Rett syndrome in females with CTS hot spot deletions: a disorder profile.  Smeets E, Terhal P, Casaer P, Peters A, Midro A, Schollen E, van Roozendaal K, Moog U, Matthijs G, Herbergs J, Smeets H, Curfs L, Schrander-Stumpel C, Fryns JP. Am J Med Genet A. 2005 Jan 15;132A(2):117-20.

Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome. Julu PO, Witt Engerström I. Brain Dev. 2005 Nov;27 Suppl 1:S43-S53.

Rett syndrome from a family perspective: The Swedish Rett Center survey.   Larsson G, Lindström B, Engerström IW. Brain Dev. 2005 Nov;27 Suppl 1:S14-S19.