Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study

被引：47

作者：

Moavero, Romina ^{[1
,2
]}

Benvenuto, Arianna ^{[1
]}

Gialloreti, Leonardo Emberti ^{[3
]}

Siracusano, Martina ^{[3
,4
]}

Kotulska, Katarzyna ^{[5
]}

Weschke, Bernhard ^{[6
]}

Riney, Kate ^{[7
,8
]}

Jansen, Floor E. ^{[9
]}

Feucht, Martha ^{[10
]}

Krsek, Pavel ^{[11
]}

Nabbout, Rima ^{[12
]}

Jansen, Anna C. ^{[13
]}

Wojdan, Konrad ^{[14
,15
]}

Borkowska, Julita ^{[5
]}

Sadowski, Krzystof ^{[5
]}

Hertzberg, Christoph ^{[16
]}

Hulshof, Hanna ^{[9
]}

Samueli, Sharon ^{[10
]}

Benova, Barbora ^{[11
]}

Aronica, Eleonora ^{[17
,18
]}

Kwiatkowski, David J. ^{[19
]}

Lagae, Lieven ^{[20
]}

Jozwiak, Sergiusz ^{[5
,21
]}

Curatolo, Paolo ^{[1
]}

Anink, J.

Blazejczyk, M.

Bongaerts, A.

Borkowska, J.

Breuillard, D.

Chmielewski, D.

Dabrowska, M.

De Ridder, J.

Giannikou, K.

Glowacka, J.

Hamieh, L.

Harvza, A.

Iyer, A.

Janssen, Bart

Jaworski, J.

Kaczorowska-Frontczak, M.

Lehmann, K.

Leusman, A.

Madcowiak, N.

Mills, J.

Muelebner, A.

Scheldeman, C.

Sciuto, A.

Sijko, K.

Slowinska, M.

Tempes, A.

机构：

[1] Tor Vergata Univ, Syst Med Dept, Child Neurol & Psychiat Unit, Via Montpellier 1, I-00133 Rome, Italy

[2] Bambino Gesu Pediat Hosp, Neurosci & Neurorehabil Dept, Child Neurol Unit, IRCCS, Pzza S Onofrio 4, I-00165 Rome, Italy

[3] Tor Vergata Univ Rome, Dept Biomed & Prevent, Via Montpellier 1, I-00133 Rome, Italy

[4] Univ Aquila, Dept Biotechnol & Appl Clin Sci, I-67100 Laquila, Italy

[5] Childrens Mem Hlth Inst, Dept Neurol & Epileptol, Al Dzieci Polskich 20, PL-04730 Warsaw, Poland

[6] Charite Univ Med Berlin, Dept Child Neurol, Augustenburger Pl 1, D-13353 Berlin, Germany

[7] Queensland Childrens Hosp, Neurosci Unit, 501 Stanley St, South Brisbane, Qld 4101, Australia

[8] Univ Queensland, Sch Clin Med, St Lucia, Qld 4072, Australia

[9] Univ Med Ctr Utrecht, Brain Ctr, Dept Child Neurol, NL-3584 Utrecht, Netherlands

[10] Univ Hosp Vienna, Dept Pediat, A-1090 Vienna, Austria

[11] Charles Univ Prague, Motol Univ Hosp, Prague 15006, Czech Republic

[12] Univ Paris 05, Necker Enfants Malad Hosp, Reference Ctr Rare Epilepsies, Imagine Inst,Dept Pediat Neurol, F-75015 Paris, France

[13] UZ Brussel, Pediat Neurol Unit, B-1050 Brussels, Belgium

[14] Warsaw Univ Technol, Inst Heat Engn, PL-00661 Warsaw, Poland

[15] Transit Technol, Ul Pawia 5, PL-01030 Warsaw, Poland

[16] Vivantes Klinikum Neukoln, Diag & Behandlungszentrum Kinder & Jugendl, D-12351 Berlin, Germany

[17] Univ Amsterdam, Dept Neuro Pathol, Amsterdam UMC, Amsterdam Neurosci, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

[18] Stichting Epilepsie Instellingen Nederland, Amsterdam, Netherlands

[19] Harvard Med Sch, Brigham & Womens Hosp, Boston, MA 02115 USA

[20] Univ Hosp KU Leuven, Dept Dev & Regenerat, Sect Pediat Neurol, B-3000 Leuven, Belgium

[21] Med Univ Warsaw, Dept Child Neurol, Zwirki & Wigury 63A, PL-02091 Warsaw, Poland

来源：

JOURNAL OF CLINICAL MEDICINE | 2019年 / 8卷 / 06期

关键词：

tuberous sclerosis complex; autism; EPISTOP; treatment; markers; epilepsy; risk factors; developmental delay; intellectual disability; diagnosis; SEIZURES; EPILEPSY; CHILDREN; RISK; IDENTIFICATION; ONSET; INTERVENTION; EVEROLIMUS; SYMPTOMS; TSC1;

D O I：

10.3390/jcm8060788

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Autism spectrum disorder (ASD) is highly prevalent in subjects with Tuberous Sclerosis Complex (TSC), but we are not still able to reliably predict which infants will develop ASD. This study aimed to identify the early clinical markers of ASD and/or developmental delay (DD) in infants with an early diagnosis of TSC. We prospectively evaluated 82 infants with TSC (6-24 months of age), using a detailed neuropsychological assessment (Bayley Scales of Infant Development-BSID, and Autism Diagnostic Observation Schedule-ADOS), in the context of the EPISTOP (Long-term, prospective study evaluating clinical and molecular biomarkers of EPIleptogenesiS in a genetic model of epilepsy-Tuberous SclerOsis ComPlex) project (NCT02098759). Normal cognitive developmental quotient at 12 months excluded subsequent ASD (negative predictive value 100%). The total score of ADOS at 12 months clearly differentiated children with a future diagnosis of ASD from children without (p = 0.012). Atypical socio-communication behaviors (p < 0.001) were more frequently observed than stereotyped/repetitive behaviors in children with ASD at 24 months. The combined use of BSID and ADOS can reliably identify infants with TSC with a higher risk for ASD at age 6-12 months, allowing for clinicians to target the earliest symptoms of abnormal neurodevelopment with tailored intervention strategies.

引用

页数：17

共 50 条

[41] Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?
Curatolo, Paolo
Scheper, Mirte
Gialloreti, Leonardo Emberti
Specchio, Nicola
Aronica, Eleonora
WORLD JOURNAL OF PEDIATRICS, 2024, 20 (01) : 40 - 53
[42] TUBEROUS SCLEROSIS COMPLEX: CLINICAL SPECTRUM AND EPILEPSY: A RETROSPECTIVE CHART REVIEW STUDY
Almobarak, Sulaiman
Almuhaizea, Mohammad
Abukhaled, Musaad
Alyamani, Suad
Dabbagh, Omar
Chedrawi, Aziza
Khan, Sameena
Aldhalaan, Hesham
TRANSLATIONAL NEUROSCIENCE, 2018, 9 (01) : 154 - 160
[43] miRNAs: serum-based biomarkers for the development of intellectual disability and autism spectrum disorder in tuberous sclerosis complex
Scheper, M.
Romagnolo, A.
Besharat, Z. Mersini
Iyer, A.
Moavero, R.
Hertzberg, C.
Weschke, B.
Riney, K.
Feucht, M.
Scholl, T.
Petrak, B.
Maulisova, A.
Nabbout, R.
Jansen, A.
Jansen, F.
Lagae, L.
Urbanska, M.
Ferretti, E.
Tempes, A.
Blazejczyk, M.
Jaworski, J.
Kwiatkowski, D.
Jozwiak, S.
Kotulska, K.
Sadowski, K.
Borkowska, J.
Curatolo, P.
Mills, J.
Aronica, E.
EPILEPSIA, 2023, 64 : 260 - 261
[44] Tuber involvement of the right fusiform face area predicts autism spectrum disorder in children with tuberous sclerosis complex
Kroeck, M.
Cohen, A.
Wall, J.
McManus, P.
Ovchinnikova, A.
Sahin, M.
Krueger, D.
Bebin, M.
Northrup, H.
Wu, J.
Warfield, S.
Peters, J.
ANNALS OF NEUROLOGY, 2022, 92 : S43 - S43
[45] Factors associated with autism spectrum disorder in children with tuberous sclerosis complex: a systematic review and meta-analysis
Mitchell, Rebecca A.
Barton, Sarah M.
Harvey, A. Simon
Ure, Alexandra M.
Williams, Katrina
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2021, 63 (07): : 791 - 801
[46] Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex
Bolton, PF
Park, RJ
Higgins, JNP
Griffiths, PD
Pickles, A
BRAIN, 2002, 125 : 1247 - 1255
[47] Impaired Language Pathways in Tuberous Sclerosis Complex Patients with Autism Spectrum Disorders
Lewis, William W.
Sahin, Mustafa
Scherrer, Benoit
Peters, Jurriaan M.
Suarez, Ralph O.
Vogel-Farley, Vanessa K.
Jeste, Shafali S.
Gregas, Matthew C.
Prabhu, Sanjay P.
Nelson, Charles A., III
Warfield, Simon K.
CEREBRAL CORTEX, 2013, 23 (07) : 1526 - 1532
[48] PSYCHIATRIC OUTCOMES IN TUBEROUS SCLEROSIS COMPLEX (TSC): AUTISTIC TRAITS AND AUTISM SPECTRUM DISORDER (ASD) IN THE TS2000 COHORT STUDY
McEwen, F. S.
Tye, C.
Liang, H.
Woodhouse, E.
Underwood, L.
Rogers, H.
Oluwo, F.
Halpin, C.
Wulandari, S.
Bolton, P. F.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2015, 59 (09) : 795 - 795
[49] Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study
Vannicola, C.
Tassi, L.
Barba, C.
Boniver, C.
Cossu, M.
de Curtis, M.
De Palma, L.
D'Errico, I
Didato, G.
Guerrini, R.
La Briola, F.
Luisi, C.
Mai, R.
Mari, F.
Marras, C.
Mastrangelo, M.
Peron, A.
Specchio, N.
Toldo, I
Turner, K.
Vignoli, A.
Canevini, M. P.
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2021, 427
[50] Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex
Jeste, Shafali Spurling
Wu, Joyce Y.
Senturk, Damla
Varcin, Kandice
Ko, Jordan
McCarthy, Brigid
Shimizu, Christina
Dies, Kira
Vogel-Farley, Vanessa
Sahin, Mustafa
Nelson, Charles A., III
NEUROLOGY, 2014, 83 (02) : 160 - 168

← 1 2 3 4 5 →