Pierre Robin syndrome and congenital sucking-swallowing disorders (SPRATON)

French national reference center for Pierre Robin syndrome and congenital sucking-swallowing disorders (SPRATON)

Logo spratonThe SPRATON rare diseases reference center takes care of children suffering from an isolated or syndromic Pierre Robin sequence, infants with congenital functional eating and respiratory disorders, whether or not integrated into neuro-genetic syndromes.

The SPRATON rare diseases reference center, whose coordinating site is at the Necker-Enfants malades hospital, is a national network comprising 1 constituent site in Lyon and 20 competence centers throughout France.

It brings together multidisciplinary medical and surgical hospital teams (pediatricians, neonatologists, pneumopediatricians specializing in sleep and non-invasive ventilation, maxillofacial surgeons, ENT specialists, geneticists, obstetricians, etc.) and multi-professional teams (physicians, speech therapists, orthodontists, psychomotricians, psychologists, etc.).

These teams are competent in the field of care, research and teaching for Pierre Robin syndromes as well as other more varied and complex situations where children present, in the first weeks of life, sucking-swallowing-ventilation disorders.

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Keywords: Pierre Robin sequence, brainstem, sucking disorders, congenital swallowing disorders, syndromic upper airway obstruction.

Medical
team

Portrait Abadie 2024

Reference center coordinator
Pr Véronique Abadie

MD, PhD

Dr Adnot Spraton

Referring pediatrician
Dr Pauline Adnot

MD

Contact us
 

Secretariat of Pr Abadie : +33 (0)1 71 19 63 21 (Hélène Briel)

Secretariat of Dr Adnot : +33 (0)1 44 38 17 93

> Send an email

In case of emergency

appel urgence SPRATON new english 2024

The children taken in charge by the SPRATON network are, as a general rule, admitted from birth in a pediatric or neonatal department for respiratory or feeding difficulties that hinder their autonomy and their return home. It is then necessary on the one hand to evaluate the seriousness of this functional impairment, and on the other hand to specify the cause of their disorders in order to establish a diagnosis.

The Pierre Robin sequence (PRS) is diagnosed at birth with several associated signs :

  • recessed chin (retrognathism)
  • posterior displacement of the tongue (glossoptosis)
  • very often a posterior cleft palate and obstructive breathing problems

A multidisciplinary team takes care of these children: pediatricians, neonatologists, sleep specialists, ENT specialists, geneticists, maxillofacial surgeons, speech therapists, orthodontists, etc., according to a care plan given to the families at the beginning of the treatment.

> Download the care pathway

In addition to health professionals, parent associations are also essential resources in this difficult process. They can provide support throughout the process, through exchanges or advices.

The association « Tremplin, syndrome de Pierre Robin et syndromes associés » is, for example, very involved with professionals and families.

Other children are investigated and managed by the SPRATON network teams for pathologies that are expressed in the first weeks of life by sucking disorders or upper airway obstructions. Many underlying diagnoses are possible.

  • Pierre Robin syndrome or sequence (PRS)
  • Stickler syndrome
  • Kniest dysplasia
  • Nager syndrome
  • CHARGE syndrome
  • 22q11.2 deletion syndrome
  • Kabuki syndrome
  • Cornelia de Lange syndrome
  • Treacher-Collins syndrome
  • Fetal alcohol syndrome (FAS)
  • Noonan syndrome
  • Costello syndrome
  • Cardiofaciocutaneous syndrome (CFC)
  • Alimentary behavior disorder of infancy
En savoir +

  • Pr Véronique Abadie, head of the reference center – pediatrician
  • Dr Pauline Adnot, pediatrician
  • Dr Véronique Soupre, maxillofacial surgeon
  • Pr Brigitte Fauroux, pediatrician (sleep)
  • Dr Lucie Griffon, pulmonologist (sleep)
  • Pr Alexandre Lapillonne, pediatrician (neonatal)
  • Dr Agnès Giuseppi, pediatrician (neonatal)
  • Clémence Jeanneton, pediatric psychomotrician
  • Hélène Gori, pediatric psychologist
  • Aurélie Royer, pediatric speech-language pathologist
  • Céliane Augustine, pediatric nurse trainer
  • Hélène Briel, secretary
  • Dr Thierry Briac, otolaryngologist (ENT)
  • Dr Nicolas Leboulanger, otolaryngologist (ENT)
  • Dr Pia Ljunggren, otolaryngologist (ENT)
  • Pr Arnaud Picard, maxillofacial surgeon
  • Dr Brigitte Vi-Fanne, orthodontist
  • Pr Stanislas Lyonnet, geneticist
  • Pr Jeanne Amiel, geneticist
  • Pr Tania Attié-Bitach, geneticist
  • Chris Gordon, research geneticist
  • Pr Laurent Salomon, obstetrician

CHARGE Protocol: Molecular, phenotypic and neuropsychological description of a national cohort of subjects with CHARGE syndrome

This project aims to include as many French patients, children or adults with CHARGE syndrome, as possible. For each patient, this will consist of a review of all the elements of the syndrome that they present, as well as a genetic analysis. Particular attention will be paid to the study of the development, psycho-affective manifestations and behavioral disorders of patients. These elements are not well known because of the sensory difficulties (hearing, sight, balance) that they present and which are an obstacle to communication and their precise evaluation.

Developer : University hospital of Poitiers
Principal investigator : Pr Brigitte Gilbert-Dussardier
Status : Study completed
Type of program : National Hospital Clinical Research Program (PHRC)
Participating centers : University hospital of Poitiers, Necker-Enfants malades university hospital (Paris), Pierre Robin syndrome and congenital sucking-swallowing disorders (SPRATON) reference center, reference center for rare diseases with psychiatric expression (Pitié-Salpêtrière Hospital, Paris), CESSA of Larnay, Center for children with multiple disabilities.

> Learn more

ADOROBIN : Impact of phonatory and facial morphological disorders on the quality of life of adolescents with Pierre Robin sequence

What happens to adolescents with Pierre Robin sequence without intellectual deficit, from a morphological and phonatory point of view, and what is their quality of life?
The identification of the determinants of this evolution could allow to reorientate the therapeutic strategies, in particular the surgical methods of closure of the cleft palate.

Developer : Necker – Enfants malades university hospital (AP-HP)
Principal investigator : Pr Véronique Abadie
Status : Recruitment in progress
Participating centers : Reference center for Pierre Robin syndrome and congenital sucking-swallowing disorders (SPRATON)
Description : Pierre Robin sequence (PRS) is a rare and complex congenital anomaly consisting of a triad of orofacial malformations (retrognathism – glossoptosis – posterior cleft palate) and neonatal functional disorders affecting feeding and breathing. Affected newborns often require heavy technical care for several months: feeding by gastric tube and/or ventilatory support. Glossoptosis and retrognathism progressively regress. The cleft palate is operated on around 1 year of age (protocol varies according to the team). We have shown that children with isolated or integrated PRS with Stickler syndrome, when well managed, have a good cognitive prognosis. Nevertheless, half of them keep phonatory disorders (rhinolalia) and sometimes maxillo-mandibular growth disorders. During adolescence, families observe psychosocial difficulties such as introversion, lack of self-esteem, and difficulties in social integration which have never been analyzed.

Goals :
– To analyze the impact on quality of life of the phonatory and morphological outcome of adolescents followed for PRS without mental retardation.
– To improve their long-term functional prognosis through better early care.
Methods :
– Recruitment of patients aged 13 to 18 years with isolated or integrated PRS with Stickler syndrome, followed in Ile-de-France.
– During one day, the patients will have a speech therapy assessment, an orofacial morphological assessment and a psychological assessment during which they will fill in three quality of life questionnaires.
– We will look for a correlation between the intensity of rhinolalia, the degree of maxillo-mandibular growth anomalies and quality of life scores.
– We will identify the early determinants of their rhinolalia (size of cleft palate, type of surgery and rehabilitation), as well as those of their maxillomandibular growth disorders in adolescence (diagnosis, degree of retrognathism, type of surgery).
Expected Results :
– This multidisciplinary study will identify the magnitude, consequences and determinants of persistent functional disorders (voice and face) that are major components of psychosocial adjustment in adolescence.
– These data will allow corrective actions for adolescents in difficulty and the identification of the best initial therapeutic strategies to reduce the psychosocial handicap of future PRSs

> Learn more

VISIOCHARGE : Analysis of the functional vision of people with CHARGE syndrome

How to describe, on a clinical and especially functional level, the ophthalmological disorders of subjects with CHARGE syndrome.

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ORALQUEST : Investigation of feeding difficulties in young children: validation of an original questionnaire

How to analyze early eating disorders in children who consult for sequelae of congenital sucking disorders and early eating disorders, those of children followed at Necker for congenital pathologies at risk of early eating disorder, compared with the general population.

Developer : Necker-Enfants malades university hospital (APHP)
Principal investigator : Pr Véronique Abadie
Sponsor : TETECOU rare diseases healthcare network
Investigators : Pr Véronique Abadie, Mrs Véronique Thouvenin
Status : Study in progress
Type of program : Prospective study
Participating centers : Reference center for Pierre Robin syndrome and congenital sucking-swallowing disorders (SPRATON)
Description : Feeding difficulties in young children are common in the general population and even more so in children followed for congenital or chronic pathologies. They include various problems, ranging from swallowing disorders such as false routes or discomfort or pain when eating, to eating behavior disorders such as food selectivity, phobias of new foods or certain textures, difficulty eating pieces, too small an appetite, conflicts around the meal ….. These difficulties have a more or less significant impact on growth, but always have a significant impact on family and social life.

These eating difficulties are difficult to analyze because of the plurality and complexity of their causes. In the clinical approach necessary for their recognition and care, independently of medical investigations, a tool for objective evaluation of the situation is useful. This tool is a questionnaire that guides the professional’s clinical approach, allowing him/her to characterize the child’s disorder and, if necessary, to propose an adapted treatment.

Today, there is no satisfactory, validated, standardized questionnaire in the general population, encompassing the age group of interest and the multiple dimensions considered. This is why the team in charge of these disorders at the Necker hospital has developed a questionnaire (ORALQUEST) that meets the needs by analyzing the four main fields involved in feeding difficulties in young children from 9 months to 6 years of age, namely: feeding behavior, oromotor difficulties, sensory sensitivity, and the family environment.

The main objective of the ORALQUEST study is to standardize and evaluate this questionnaire in a population of children followed up at the Necker hospital for eating disorders, whether or not they are included in well identified congenital pathologies. This « clinical » population (300 children) will be composed of children followed for eating disorders and children followed for congenital pathologies likely to cause eating difficulties, namely: esophageal atresia, cleft lip and palate, Pierre Robin sequence, complex congenital heart disease, autism spectrum disorder, and chromosomal anomaly.

> Learn more

DYSROBIN: Implication of brainstem dysfunction in the pathophysiology of the Pierre Robin sequence

Developer : Civil hospices of Lyon
Principal investigator : Dr Laurianne Coutier
Directors : Pr Philippe Reix, Pr Patricia Franco
Supervisors : Pr Véronique Abadie, Pr Brigitte Fauroux
Status : Recruitment in progress
Type of program : Interregional hospital clinical research program (PHRC)
Participating centers : Reference center for Pierre Robin syndrome and congenital sucking-swallowing disorders (SPRATON) – Paris, Competence center for Pierre Robin syndrome and congenital sucking-swallowing disorders (SPRATON) – Lyon

 

> Learn more

Molecular identification of CHARGE syndrome not mutated in CHD7

This program is carried out within the INSERM team of Pr Lyonnet and Pr Amiel at the IMAGINE Institute.

Molecular identification of associated Pierre Robin sequences

This program is carried out within the INSERM team of Pr Lyonnet and Pr Amiel at the IMAGINE Institute.

2022

Noninvasive Respiratory Support as an Alternative to Tracheostomy in Severe Laryngomalacia.
Elina Veroul, Alessandro Amaddeo, Nicolas Leboulanger, Matthieu Gelin, Françoise Denoyelle, Briac Thierry, Brigitte Fauroux, Romain Luscan
Laryngoscope, 2022 Sep, PMID: 34713900 DOI: 10.1002/lary.29928

2021

Paediatric long term continuous positive airway pressure and noninvasive ventilation in France: A cross-sectional study.
Brigitte Fauroux, Sonia Khirani, Alessandro Amaddeo, Bruno Massenavette, Priscille Bierme, Jessica Taytard, Nathalie Stremler, Melisande Baravalle-Einaudi, Julie Mazenq et al.
Respir Med, 2021 May, PMID: 33848922 DOI: 10.1016/j.rmed.2021.106388

Using continuous nasal airway pressure in infants with craniofacial malformations.
Alessandro Amaddeo, Lucie Griffon, Brigitte Fauroux
Semin Fetal Neonatal Med, 2021 Dec, PMID: 34556441 DOI: 10.1016/j.siny.2021.101284

Developmental outcome of children with Robin sequence: How does the question arise?
A Fleurance, C Poets, C Chalouhi, B Thouvenin, V Abadie
Semin Fetal Neonatal Med, 2021 Dec, PMID: 34561179 DOI: 10.1016/j.siny.2021.101286

Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients.
Béatrice Thouvenin, Véronique Soupre, Marie-Anne Caillaud, Charlotte Henry-Mestelan, Christel Chalouhi, Bachar Houssamo, Cécile Chapuis, Katia Lind, Aurélie Royer et al.
Orphanet J Rare Dis, 2021 Oct 20, PMID: 34670591 PMCID: PMC8527704 DOI: 10.1186/s13023-021-02072-0

Safety of Cyproheptadine, an Orexigenic Drug. Analysis of the French National Pharmacovigilance Data-Base and Systematic Review.
Valérie Bertrand, Nathalie Massy, Nancy Vegas, Valérie Gras, Christel Chalouhi, Marie-Pierre Tavolacci, Véronique Abadie
Front Pediatr, 2021 Sep 29, PMID: 34676184 PMCID: PMC8525494 DOI: 10.3389/fped.2021.712413

Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
Nancy Vegas, Karen Low, Christopher C Y Mak, Jasmine L F Fung, Anne V Hing, Brian H Y Chung, Dan Doherty, Jeanne Amiel, Christopher T Gordon
Brain, 2021 Mar 3, PMID: 33351141 DOI: 10.1093/brain/awaa432

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Maya Chopra, Meriel McEntagart, Jill Clayton-Smith, Konrad Platzer, Anju Shukla, Katta M Girisha, Anupriya Kaur, Parneet Kaur, Rolph Pfundt, Hermine Veenstra-Knol, Grazia M S Mancini et al.
Am J Hum Genet, 2021 Jun 3, PMID: 33909992 PMCID: PMC8206162 DOI: 10.1016/j.ajhg.2021.04.007

Managing infants with craniofacial malformations – Where to go next?
Christian F Poets, Veronique Abadie, Corstiaan Breugem, Colin Wallis, Francois Abel, Christel Chalouhi, Frea Kruisinga, Anna-Lisa Sorg, Cornelia Wiechers
Semin Fetal Neonatal Med, 2021 Dec, PMID: 34548245 DOI: 10.1016/j.siny.2021.101289

Genetics of craniofacial malformations.
Ariane Schmetz, Jeanne Amiel, Dagmar Wieczorek
Semin Fetal Neonatal Med, 2021 Dec, PMID: 34561177 DOI: 10.1016/j.siny.2021.101290

2020

The use of three-dimensional reconstructions of CT scans to evaluate anomalies of hyoid bone in Pierre Robin sequence: A retrospective study
Giudice, A ; Belhous, K ; Barone, S ; Soupre, V ; Morice, A ; Vazquez, MP & al
J Stomatol Oral Maxillofac Surg, 2020 Sep, PMID: 31499229 DOI: 10.1016/j.jormas.2019.08.014

Scurvy: A New Old Cause of Skeletal Pain in Young Children.
Christel Chalouhi, Nayla Nicolas, Nancy Vegas, Soraya Matczak, Houmam El Jurdi, Nathalie Boddaert, Véronique Abadie
Front Pediatr, 2020 Jan 31, PMID: 32083038 PMCID: PMC7006051 DOI: 10.3389/fped.2020.00008

Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients.
Véronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, Marine Legendre, Gaelle Malecot, Alexia Burtin, Tania Attie-Bitach, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert-Dussardier & Laurence Vaivre-Douret
Orphanet J Rare Dis, 2020 Jun 3, PMID: 32493418 PMCID: PMC7268350 DOI: 10.1186/s13023-020-01421-9

Cerebral oxygenation in children with sleep-disordered breathing.
Laurence Tabone, Sonia Khirani, Alessandro Amaddeo, Guillaume Emeriaud, Brigitte Fauroux
Paediatr Respir Rev, 2020 Apr, PMID: 31753753 DOI: 10.1016/j.prrv.2019.10.002

Developmental changes of upper airway dimensions in children.
Romain Luscan,Nicolas Leboulanger,Pierre Fayoux,Gaspard Kerner,Kahina Belhous,Vincent Couloigner,Erea-Noël Garabedian,François Simon,Françoise Denoyelle,Briac Thierry
Paediatr Anaesth, 2020 Apr, PMID: 31995659 DOI: 10.1111/pan.13832

Functional Vision Analysis in Patients With CHARGE Syndrome.
Gilles C Martin, Matthieu P Robert, Georges Challe, Nhung T H Trinh, Tania Attié-Bitach, Dominique Brémond-Gignac, Bahram Bodaghi, Véronique Abadie
J Pediatr Ophthalmol Strabismus, 2020 Mar 1, PMID: 32203596 DOI: 10.3928/01913913-20200207-02

[Creation of a tool to help assess eating disorders in young children].
Gaëlle Malécot-Le Meur, Bénédicte Jacquemet, Clémence Bégo, Cécile Godot, Véronique Abadie
Soins Pediatr Pueric, Mar-Apr 2020, PMID: 32446556 DOI: 10.1016/j.spp.2020.02.009

Non-invasive Ventilation and CPAP Failure in Children and Indications for Invasive Ventilation.
Alessandro Amaddeo, Sonia Khirani, Lucie Griffon, Theo Teng, Agathe Lanzeray, Brigitte Fauroux
Front Pediatr, 2020 Oct 26, PMID: 33194886 PMCID: PMC7649204 DOI: 10.3389/fped.2020.544921

2019

High-flow nasal cannula for children not compliant with continuous positive airway pressure
Amaddeo, A ; Khirani, S ; Frapin, A ; Teng, T ; Griffon, L ; Fauroux, B
Sleep Med, 2019 Nov, PMID: 31604152 DOI: 10.1016/j.sleep.2019.05.012

Guidelines of the French Society of Otorhinolaryngology. Role of the ENT specialist in the diagnosis of childhood obstructive sleep apnea-hypopnea syndrome (OSAHS). Part 1: Interview and physical examination
Leclere, JC ; Marianowski, R ; Monteyrol, PJ ; Akkari, M ; Chalumeau, F ; Fayoux, P & al
Eur Ann Otorhinolaryngol Head Neck Dis, 2019 Sep, PMID: 31202666 DOI: 10.1016/j.anorl.2019.05.017

Guidelines of the French Society of Otorhinolaryngology. Role of the ENT specialist in the diagnosis of obstructive sleep apnea-hypopnea syndrome (OSAHS) in children. Part 2: Diagnostic investigations apart from sleep studies
Leclere, JC ; Marianowski, R ; Monteyrol, PJ ; Akkari, M ; Chalumeau, F ; Fayoux, P & al
Eur Ann Otorhinolaryngol Head Neck Dis, 2019 Sep, PMID: 31202665 DOI: 10.1016/j.anorl.2019.05.016

International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Diagnosis, pre-operative, operative and post-operative pediatric choanal atresia care
Moreddu, E ; Rizzi, M ; Adil, E ; Balakrishnan, K ; Chan, K ; Cheng, A & al
Int J Pediatr Otorhinolaryngol, 2019 Aug, PMID: 31103745 DOI: 10.1016/j.ijporl.2019.05.010

2017

Efficiency of prenatal diagnosis in Pierre Robin sequence
Elvira Di Pasquo , Jeanne Amiel, Philippe Roth, Valérie Malan, Katia Lind, Christel Chalouhi, Véronique Soupre, Christopher T Gordon, Stanislas Lyonnet, Laurent J Salomon, Véronique Abadie.
Prenat Diagn, 2017 Nov, PMID: 28950416 DOI: 10.1002/pd.5162

– Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, et al.
Am J Med Genet C Semin Med Genet, 2017 Dec, PMID: 29178447 DOI: 10.1002/ajmg.c.31591

2016

Continuous Positive Airway Pressure for Upper Airway Obstruction in Infants with Pierre Robin Sequence
Alessandro Amaddeo , Veronique Abadie, Christel Chalouhi, Natacha Kadlub, Annick Frapin, Alexandre Lapillonne, Nicolas Leboulanger, Erea Noel Garabédian, Arnaud Picard, Brigitte Fauroux
Plast Reconstr Surg, 2016 Feb, PMID: 26818297 DOI: 10.1097/01.prs.0000475799.07597.23

2014

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence
Christopher T Gordon, Catia Attanasio, Shipra Bhatia, Sabina Benko, Morad Ansari, Tiong Y Tan, Arnold Munnich, Len A Pennacchio, Véronique Abadie, I Karen Temple, Alice Goldenberg, Veronica van Heyningen, Jeanne Amiel, David FitzPatrick, Dirk A Kleinjan, Axel Visel, Stanislas Lyonnet
Hum Mutat, 2014 Aug, PMID: 24934569 PMCID: PMC4389788 DOI: 10.1002/humu.22606

2013

Developmental outcome in Pierre Robin sequence : a longitudinal and prospective study of a consecutive series of severe phenotypes
Béatrice Thouvenin Juliette Djadi-PratChristel ChalouhiSébastien PierrotStanislas LyonnetGérard CoulyVéronique Abadie.
Am J Med Genet A, 2013 Feb, PMID: 23303695 DOI: 10.1002/ajmg.a.35773

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The Pierre Robin sequence

Contact information

Necker-Enfants malades university hospital
> General pediatrics department

149 rue de Sèvres
75743 PARIS Cedex 15

> Pediatric welcome booklet

In Necker, the SPRATON reference center in brief 

0
patients followed at least once a year*
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medical consultations*
0
day hospitalization*
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patients in full hospitalization*
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authorized therapeutic education program*
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patients trained in therapeutic education*
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current research projects*
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university courses*
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publications*
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teleconsultation procedures*

* data valid for 2022