Vegas Nancy, Rio Marlène, Adnot Pauline, Soupre Véronique, Petit Florence, Ghoumid Jamal, Toutain Annick, Dieterich Klaus, Marey Isabelle, Gilbert-Dussardier Brigitte, Le Guyader Gwenaël, Francannet Christine, Schaefer Elise, Perrin Laurence, Nizon Mathilde, Beneteau Claire, Genevieve David, Willems Marjolaine, Faivre Laurence, Grimaldi Marianne, Melki Judith, Stoeva Radka, Putoux Audrey, Pons Linda, Benistan Karelle, Amiel Jeanne, Abadie Véronique
General Pediatrics Unit, Necker University Hospital, Assistance Publique-Hôpitaux de Paris, 149 rue de Sèvres, 75015, Paris, France.
Malformation and Embryology Laboratory, IMAGINE Institute, Paris, France.
Orphanet J Rare Dis. 2025 Jun 5;20(1):278. doi: 10.1186/s13023-025-03609-3.
SATB2-associated syndrome (SAS) results from various mutations of the SATB2 gene and associates a neurodevelopmental disorder including major speech delay, intellectual disability, and behavioral problems with dental anomalies, sometimes a cleft palate, risk of osteoporosis, and facial dysmorphism. The principal objective of this study was to describe the oral phenotype of young children with SATB2-associated syndrome, especially in terms of orofacial malformation of Robin Sequence (RS) spectrum (bifid uvula, cleft palate, or RS, dental malformation, feeding and communication, with data from a national cohort. The secondary objective was to determine whether feeding and communication disorders were more severe when associated with an orofacial malformation of RS spectrum.
We conducted a retrospective cross-sectional study among the largest possible cohort of patients with a mutation of the SATB2 gene in France. A questionnaire completed by the referring physicians and by telephone with parents enabled us to collect the following clinical information: (1) orofacial morphology, feeding difficulties, and pharyngeal functioning from birth to 3 years, (2) communication and language from 0 to 6 years, (3) speech development at the last examination.
The study included 40 patients. Early and persistent feeding difficulties were found in 55% of the children. Communication was abnormal from the first months of life, with poor babbling in 85% of them. A major language delay was described in all patients; 65% had a vocabulary of 10 words or less. An anomaly of RS spectrum was found in half the cases, and dental malformations were described in 90%. Feeding difficulties and language delay were greater in the group with one or more orofacial malformations than the group with none.
This study confirmed the severity of oral involvement, affecting feeding and speech simultaneously, in individuals with SAS. It raises the question of why the oral phenotype involving feeding and speech is more severe in the presence of cleft palate or RS. We recommend close monitoring of prelanguage communication in infants with apparently isolated cleft palate or RS and the search for SATB2 impairment when a cleft palate or RS is found, especially in the prenatal period.
SATB2相关综合征（SAS）由SATB2基因的各种突变引起，与一种神经发育障碍相关，包括严重的语言发育迟缓、智力残疾和行为问题，伴有牙齿异常，有时还伴有腭裂、骨质疏松风险和面部畸形。本研究的主要目的是描述患有SATB2相关综合征的幼儿的口腔表型，特别是在罗宾序列（RS）谱系的口面部畸形方面（双悬雍垂、腭裂或RS、牙齿畸形、喂养和沟通），数据来自一个全国性队列。次要目的是确定当与RS谱系的口面部畸形相关时，喂养和沟通障碍是否更严重。
我们在法国对尽可能多的SATB2基因突变患者队列进行了一项回顾性横断面研究。由转诊医生和通过电话与家长完成的问卷使我们能够收集以下临床信息：（1）从出生到3岁的口面部形态、喂养困难和咽部功能，（2）从0到6岁的沟通和语言，（3）上次检查时的语言发育情况。
该研究纳入了40名患者。55%的儿童存在早期和持续性喂养困难。从生命的最初几个月起沟通就不正常，其中85%的儿童牙牙学语能力差。所有患者均有严重的语言发育迟缓；65%的患者词汇量在10个或更少。半数病例发现有RS谱系异常，90%的病例描述有牙齿畸形。有一个或多个口面部畸形的组比无畸形组的喂养困难和语言发育迟缓更严重。
本研究证实了SAS患者口腔受累的严重性，同时影响喂养和言语。这就提出了一个问题，即为什么在存在腭裂或RS的情况下，涉及喂养和言语的口腔表型会更严重。我们建议对明显孤立性腭裂或RS的婴儿进行语言前沟通的密切监测，并且当发现腭裂或RS时，尤其是在孕期，要检查是否存在SATB2损伤。
