Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022. / 浙江省1200ä¸‡ä¾‹æ–°ç”Ÿå„¿å ˆå¤©æ€§ç”²çŠ¶è ºåŠŸèƒ½å‡é€€ç—‡ã€é«˜è‹¯ä¸™æ°¨é ¸è¡€ç—‡ç­›æŸ¥ç»“æžœåˆ†æž.

OBJECTIVES: To analyze the results of neonatal screening for congenital hypothyroidism (CH) and hyperphenylalaninemia (HPA) in Zhejiang province from 1999 to 2022. METHODS: A total of 11 922 318 newborns were screened from September 1999 and December 2022 in Zhejiang province. The blood thyroid stimulating hormone (TSH) levels were measured by a fluorescence method and blood phenylalanine (Phe) levels were measured by fluorescence method or tandem mass spectrometry. TSH≥9 µIU/mL was considered positive for CH, while Phe>120 µmol/L and/or Phe/Tyr ratio>2.0 were considered positive for HPA. The positive newborns in screening were recalled, and the gene variations were detected by high-throughput sequencing and MassARRAY tests. RESULTS: The overall neonatal screening rate during 1999-2022 was 89.41% (11 922 318/13 333 929) and the screening rate was increased from 6.46% in 1999 to 100.0% in 2022. A total of 8924 cases of CH were diagnosed among screened newborns with an incidence rate of 1/1336. A total of 563 cases of HPA were diagnosed, including 508 cases of classic phenylketonuria (cPKU) and 55 cases of tetrahydrobiopterin deficiency (BH4D), with an incidence rate of 1/21 176. Ninety-seven out of 8924 cases of CH underwent genetic analysis. Gene mutations were detected in 9 CH related genes, the highest frequency mutations were found in DUOX2 gene (69.0%) with c.3329G>A (p.R1110Q) (18.2%) and c.1588A>T (p.K530X) (17.3%) as the hotspot mutations. There were 81 PAH gene variants detected in a total of 250 cases of cPKU, and c728G>A (p.R243Q) (24.4%), c.721C>T (p.R241C) (15.0%) were the hotspot mutations. Meanwhile 7 novel variants in PAH gene were detected: c.107C>A (p.S36*), c.137G>T (p.G46V), c.148A>G(p.K50E), c.285C>T (p.I95I), c.843-10delTTCC, exon4-7del and c.1066-2A>G. There were 12 PTS gene variants detected in 36 cases of BH4D, and c.259C>T (p.P87S) (31.9%) was the hotspot mutation. CONCLUSIONS: The incident of CH has increased from 1999 to 2022 in Zhejiang province, and it is higher than that of national and global levels; while the incidence of HPA is similar to the national average. DUOX2 gene variation is the most common in CH patients; c.728G>A (p.R243Q) is the hotspot mutation in cPKU patients, while c.259C>T (p.P87S) is the hotspot mutation in BH4D patients.

Predicting Hemorrhage Progression in Deep Intracerebral Hemorrhage: A Multicenter Retrospective Cohort Study.

BACKGROUND: Hemorrhage progression in deep intracerebral hemorrhage (ICH) involves not only the growth of parenchymal hematoma but also an increase in intraventricular hemorrhage (IVH). The search for methods that predict both the increased risk of parenchymal hematoma and IVH growth is warranted. METHODS: We conducted a retrospective cohort study at multiple centers. Participants with deep ICH were enrolled from January 2018 to December 2021. Prediction models based on logistic regression analysis included clinical as well as routine radiographic and radiomics variables, separately or in combination. The performance of each model was evaluated using discrimination measures (e.g., area under the curve [AUC]). Evaluation of clinical utility was performed using decision curve analysis (DCA). RESULTS: Overall, 647 individuals across 4 stroke centers were included. A total of 429 (66%) patients from 3 centers were assigned to the primary cohort and 218 (34%) from another center were placed in the validation cohort. Multivariate analysis showed that the Glasgow Coma Scale score, baseline ICH volume, IVH, blend sign, and radiomics score were associated with hemorrhage progression in the primary cohort. The clinical-radiomics model (AUC = 0.852 and 0.835) improved the prediction performance of hemorrhage progression compared to the Noncontrast computed tomography signs model (AUC = 0.666 and 0.618) in both the primary and validation cohorts, with similar results in the decision curve analysis curves. CONCLUSIONS: The clinical-radiomics model outperformed the routine Noncontrast computed tomography signs model in predicting the progression of deep ICH. The clinical benefit of screening patients using this model may assist in risk stratification.

Association Between Anatomical Location and Hematoma Expansion in Deep Intracerebral Hemorrhage.

OBJECTIVE: To establish the relationship between hematoma sites of involvement and hematoma expansion (HE) in patients with deep intracerebral hemorrhage (ICH). METHODS: Eligible patients with deep ICH admitted to hospital within 6 hours of onset between 2018 and 2020 were included in this retrospective multi-center study. Individuals with secondary ICH were excluded. The volume of HE was evaluated based on admission and follow-up computed tomography scans. Associations between deep ICH sites of involvement and HE were examined using multivariable logistic regression analysis while adjusting for confounding covariates of HE. RESULTS: We enrolled 583 individuals from three stroke centers. Data from a final total of 460 patients were used in the analysis; of these patients, 159 (34.6%) had HE. In the crude model without adjustment, external capsule, anterior limb of the internal capsule, and posterior limb of the internal capsule (PLIC) involvement were correlated with HE. After fully adjusted models for sex, age, intraventricular hemorrhage, Glasgow Coma Scale admission score, baseline ICH volume, and time from onset to initial computed tomography, multivariable logistic regression revealed that the PLIC is a robust predictor of HE in patients with deep ICH (adjusted odds ratio = 2.73; 95% confidence interval = 1.75-4.26; p < 0.001). CONCLUSION: Involvement of the posterior limb of the internal capsule in deep hemorrhage could be a promising predictor of HE.

[Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].

OBJECTIVE: To analyze the result and follow-up data of screening for newborn amino acid metabolic disorders in Zhejiang province. METHODS: A total of 1 861 262 newborns were screened for amino acid metabolic disorders during January 2009 and December 2016 in Zhejiang province. The screening results and the follow-up data were analyzed retrospectively. RESULTS: One hundred and sixty four cases were diagnosed as amino acid metabolic disorders with a prevalence of 1:11 349, including 83 with hyperphenylalaninaemia (1:22 400), 29 with neonatal intrahepatic cholestasis caused by citrin deficiency (1:64 138), 16 with methionine S-adenosyltransferase deficiency (1:116 250), 9 with maple syrup urine disease (1:206 667), 8 with argininemia (1:232 500), 7 with citrullinemia type Ⅰ (1:265 700), 6 with hyperprolinemia type Ⅰ (1:310 000), and 2 with carbamylphosphate synthetase Ⅰ deficiency(1:930 000). In addition, ornithine transcarbamylase deficiency, cystathionine ß-synthase deficiency, argininosucoinate aciduria and tyrosinemia type Ⅰ were detected in one patient for each, respectively. Two patients had developmental delay, 7 patients were dead, and 2 cases of maple syrup urine disease were lost to follow-up. CONCLUSIONS: Hyperphenylalaninaemia is the most common amino acid metabolic disease in newborns in Zhejiang province. Patients with amino acid metabolic disorders identified in newborn screening program can have chance for normal growth development by intervention.

[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up].

OBJECTIVE: To analyze the results and follow up data of screening for newborn organic aciduria in Zhejiang province. METHODS: The results and follow-up data of 1 861 262 newborns from Zhejiang province undergoing screening for organic aciduria during January 2009 and December 2016 were retrospectively analyzed. The acylcarnitine spectrum in urine samples was detected by tandem mass spectrum (MS/MS) and the positive patients were confirmed by urine gas chromatography mass spectrometry and/or gene analysis. RESULTS: Ninety two cases of organic aciduria were confirmed with a prevalence of 1:20 200. Among 40 cases of methylmalonic academia (MMA), 13 (32.5%) were of MMA simple type and 27 (67.5%) were combined type. Genetic analysis showed 6 cases of MUT type and 1 case of CblB type out of 7 patients with MMA simple type, 10 cases of CblC and 1 case of CblF out of 11 patients with combined type, respectively. Six patients had propionic academia with a prevalence of 1:310 200, 7 had isovaleric academia (1:265 900), 6 had glutaric academia type 1 (1:310 200), 27 had 3-methylcrotonyl-CoA carboxylase deficiency (MCC, 1:68 900), 1 had 3-hydroxy-3-methylglutaric aciduria (1:1 861 300), 2 had ß-ketothiolase deficiency (1:960 600), and 3 had biotinidase deficiency/holocarboxylase synthetase deficiency (1:620 400). Thirty-one patients had a disease onset at neonatal period, and 15 at post-neonatal period. Thirty-three patients had brain involvements or cranial imaging disorders. Three patients with MMA had kidney diseases or heomlytic uremic syndrome, and 3 had myocardial impairments. Twenty patients died during the follow-up. CONCLUSIONS: MMA is the most common newborn organic aciduria in Zhejiang province. Except MCC, most organic aciduria may lead to metabolism decompensation, complications or even death.

[Screening for fatty acid oxidation disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].

OBJECTIVE: To screen fatty acid oxidation disorders (FAOD) in newborns in Zhejiang province. METHODS: A total of 1 861 262 newborns were screened for FAOD in Neonatal Screening Center of Zhejiang Province during January 2009 and December 2016. The blood samples from newborns were screened by tandem mass spectrometry, and diagnosis of FAOD was confirmed by urine organic acid measurement combined with genetic analysis. The prognosis and follow-up of patients with FAOD were also evaluated. RESULTS: Of 1 861 262 newborns screened, 121 cases of FAOD were diagnosed. Among 121 cases of FAOD, primary carnitine deficiency (PCD) was the most common type (n=78, 64.5%), which was followed by short-chain acyl-CoA dehydrogenase deficiency (SCADD, n=27, 22.3%), medium-chain acyl-CoA dehydrogenase deficiency (n=5, 4.1%), multiple acyl-CoA dehydrogenase deficiency (MADD, n=4, 3.3%), very long-chain acyl-CoA dehydrogenase deficiency (n=3, 2.5%), carnitine palmitoyltransferase Ⅰ deficiency(n=2, 1.7%)and carnitine palmitoyltransferase Ⅱ deficiency (CPTⅡD, n=2, 1.7%). During 2-82 month follow-up, 15 patients were lost, 4 were dead (1 PCD, 1 MADD, and 2 CPTⅡD), and the remaining 102 subjects had normal intelligence and physical development without any clinical symptoms. CONCLUSIONS: PCD and SCADD are the most common FAODs in newborns in Zhejiang province. Most of FAOD patients are asymptomatic, and have normal growth and development after early intervention and management.

Newborn screening in Zhejiang, China.

BACKGROUND: It has been 11 years since newborn screening started in Zhejiang in 1999. The aim of this study was to analyze and summarize the status of newborn screening in Zhejiang from 1999 to 2009. METHODS: Blood samples were collected from the heels of newborns 72 hours after birth. We have conducted laboratory tests that the congenital hypothyroidism (CH) and circulating levels of thyroid-stimulating hormone (TSH) was detected. Blood phenylalanine (Phe) was detected for phenylketonuria (PKU). Dissociation-enhanced lanthanide fluorescent immunoassay (DELFIA) was used for detection. RESULTS: From 1999 to 2009, 3 875 228 newborns were screened and 2309 cases were confirmed as CH and 155 cases were confirmed as PKU. The incidence of CH and PKU were 1:1678 and 1:25 001 respectively. CONCLUSION: In 11 years, the Zhejiang newborn screening center screened more than 3.8 million newborns, and helped more than 2000 CH and PKU patients to obtain early treatment in order to prevent physical disability and mental retardation.

Diagnosis and treatment of subclinical hypothyroidism detected by neonatal screening.

BACKGROUND: This study was undertaken to explore the clinical outcome and prognosis of subclinical hypothyroidism detected by newborn screening. METHODS: Newborn screening was conducted at 1156 health care institutions in Zhejiang Province from October 1999 to September 2006. Included were (1) infants who had thyroid-stimulating hormone (TSH) ≥ 20 mU/L, and normal or lower normal levels of triiodothyronine (T(3)) and thyroxine (T(4)) and (2) infants with TSH between 5.6 mU/L and 20 mU/L at a confirmatory examination and follow-up showing TSH levels ≥ 20 mU/L or delayed reduction in T(4) levels. These infants were considered as having subclinical hypothyroidism and levothyroxine (L-T(4)) at an initial dose of 3-5 µg/kg per day was administered. The levels of TSH and T(4), developmental quotient (DQ), and index of growth were evaluated. RESULTS: A total of 204 infants met our criteria for subclinical hypothyroidism, with an incidence of 1/8809. After 2-4 weeks of standard therapy, serum TSH level dropped to normal and T(4) reached a higher normal level in all the 204 infants. Evaluations of 60 patients after 2 years of therapy showed that their average DQ was 101 ± 14.61, and body weight and height were within the normal ranges. Bone age test for 54 patients revealed normal development in 44, slightly retarded development in 7, and advanced development in 3. CONCLUSIONS: Newborns with high TSH levels should be given particular attention to ensure early diagnosis. A L-T(4) dose of 3-5 µg/kg per day was effective in the initial treatment of subclinical hypothyroidism.

[Screening for neonatal inborn errors of metabolism by electrospray ionization-tandem mass spectrometry and follow-up].

OBJECTIVE: To determine the impact of expanded newborn screening using tandem mass spectrometry (MS/MS) on the overall detection rate of inborn errors of metabolism in Zhejiang province and to assess the outcome of the patients who were diagnosed. METHOD: Blood spots were collected between days 3 and 6 of life from the newborns. All samples were subjected to MS/MS analysis using Waters Quattro API. Confirmation tests included amino acid analysis, urinary organic acids by GC-MS, routine blood analysis, biochemistry, blood gas analysis, blood glucose and ammonia tests, blood homocysteine, lactate and pyruvate tests, urine acetone tests, biotin and biotin enzyme profile and DNA analysis. Standard treatment protocol was given to the patients. Protein restricted diet, special powdered formula and medicines recommended for the patients with amino acidemias. Protein restricted diet and L-carnitine, folic acid and Vitamin B12 supplementation were given for the patients with organic acidemia. L-carnitine was given to the patients with primary carnitine deficiency. The overall epidemiology, prognosis, follow-up of the screening program were also investigated in the neonates. RESULT: A total of 129 415 neonates were investigated for 26 inborn errors of metabolism during the period. Twenty-three newborns were confirmed as having inborn errors of metabolism, including 13 with amino acidemias, 6 with organic acidemias and 4 with fatty acid oxidation disorders. The prevalence was 1:5626. Positive predictive value was 2.10%, specificity was 99.72% and sensitivity 100%. Seventeen children remain asymptomatic during the follow-up. Five patients had motor and mental developmental delay. One patient presented metabolic disorders during the follow-up. No death occurred in this series of patients. CONCLUSION: This strategy represents a valuable preventive medicine approach by enabling diagnosis and treatment before the onset of symptoms.

[Observation time for drug administration and withdrawal in the treatment of children with congenital hypothyroidism].

OBJECTIVE: To study the best observation time for drug administration and withdrawal in the treatment of children with transient congenital hypothyroidism,seeking an objective basis for the safe drug withdrawal. METHODS: Levothyroxine was prescribed for 1 144 children diagnosed with congenital hypothyroidism (CH) and according to the results levothyroxine was adjusted to a maintenance dosage. Examinations were performed periodically including physical and mental development, thyroid ultrasonography,and blood levels of T3, T4, TSH. For the patients with a small maintenance dosage of levothyroxine (15.0 - 16.6 g/d) and all the examinations normal, levothyroxine was withdrawn at 2 - 3 years, and the children were followed up and reexamined after 1 month, 2 months, and 10 months, respectively. Permanent drug withdrawal was determined for children with all the examinations normal. Once abnormal TSH occurred, levothyroxine was prescribed again, and followed up continuously. RESULT: Levothyroxine was withdrawn from 157 children. During the follow up, for 15 children (9.55%) levothyroxine were prescribed continuously, and for 142 children permanent drug withdrawal (confirmed with transient CH) was determined. Abnormal TSH of various degrees was detected in 48 cases: 25.48 % (40/157),4.46 % (7/157), and 0.64 % (1/157) were detected at 1, 2 and 10 months after drug withdrawal, respectively. In 15 children levothyroxine was prescribed again for the remarkably high TSH, and the other 33 with mildly abnormal TSH finished the treatment since TSH normalized during follow-up. CONCLUSION: After 2 - 3 years of regular treatment, levothyroxine can be withdrawn from children with normal T3, T4, TSH, physical and mental development, and thyroid function. The best observation time for drug withdrawal should be 2 - 3 months. If T3, T4 and TSH levels are in the normal range, drug can be withdrawn safely. Once abnormal results were detected during follow-up, levothyroxine should be administrated continuously.

[Application of CAD/CAM techniques in mandible large-scale defect and reconstruction with vascularized fibular bone graft].

OBJECTIVE: To exploit computer-aided design and computer-aided manufactured (CAD/CAM) techniques and application in the reconstruction of mandible large-scale defect with vascularized fibular bone graft. METHODS: Before actually performing surgery, three-dimensional(3D) computed tomography(CT) was performed in 7 patients with mandibular large-scale defects, and 3D CT images were acquired by processing CT data. Then the CT data were transformed into a readable format and transferred to produce facsimile models by means of using rapid prototyping(RP) techniques. When individual mandibular models and enantiomorphous models were produced, evaluation and surgical simulation was performed in model, which included measuring range of mandible lesions, prefabrication of mandibular reconstructive titanium palate, precise position of titanium screws, shaping the free vascularized fibula by mandibular, etc. According to the simulations, the mandible reconstructions were finished in operation. RESULT: CAD/CAM techniques and application can distinctly display the mandibular lesions and ambient relationships, which is very useful for clinical assessment and surgical planning. Particular advantages were the unlimited trials with the imaging method, and the feeling of reality with the model method. The actual operative time was shortened, and surgery results were satisfactory with few complications. CONCLUSION: CAD/CAM techniques are very helpful for simulation of mandible large-scale defect with complicated anatomical and reconstructive problems. By preoperative simulation of procedures, surgeons can improve or refine treatment planning using this method and improve postoperative results.

[Correlation of congenital hypothyroidism with birth weight and gestational age in newborn infants].

OBJECTIVE: To investigate the correlation of congenital hypothyroidism (CH) with birth weight and gestational age in newborn infants. METHODS: The screening of CH was conducted in all the live births in 2005 of Zhejiang Province, the blood samples were collected from heel stick. The thyroid stimulating hormone (TSH) was measured by time-resolved fluorescence immunoassay (TRFIA). If TSH was>9.0 mU/L, the infant was recalled for further examination. RESULTS: A total of 387,926 infants were screened in 2005, of whom 289 cases were identified with CH. The prevalence rate was 1/1,342. Among the 289 CH cases, the prevalence of premature infants, term infants and post term infants were 1/1,454, 1/1,469 and 1/246, respectively. The CH prevalence of post term infants was significantly higher than that in other two groups (P<0.01). The prevalence of low birth weight infants, normal weight infants and macrosomia was 1/575, 1/1,505 and 1/473, respectively. The prevalence of low birth weight infants and macrosomia was significantly higher than that of normal weight group (P<0.01). CONCLUSION: The prevalence of CH is associated with the birth weight and gestational age. To reduce the prevalence of CH in children, it is crucial to prevent post term, low birth weight, and macrosomia cases.

[Effect of maternal autoimmune thyroid disease on intellectual development of infants].

OBJECTIVE: To study the effect of maternal Hashimoto's disease (an autoimmune thyroid disease) on intellectual development of infants. METHODS: From July 2001 to June 2003, 21 infants born by mothers suffered from Hashimoto's disease were followed up with provincial neonatal disease screening network system. Their thyroid function was assessed and their mental development was evaluated with Gesell development schedules. RESULT: (1) Among the 21 infants, 8 showed normal thyroid function, 11 showed hyperthyrotropinemia, 2 cases had congenital hypothyroidism, which showed significant differences from those born by healthy mothers. (2) The mental and psychomotor development of infants whose mothers suffered from Hashimoto's disease lagged behind those with the healthy mothers (P <0.05). CONCLUSION: Maternal Hashimoto's disease may affects infants' thyroid function and mental development.

[Screening for congenital hypothyroidism in neonates of Zhejiang Province during 1999-2004].

OBJECTIVE: To analyze the data of screening for congenital hypothyroidism (CH) newborns in Zhejiang Province during 1999-2004. METHODS: The dried blood samples were collected on filter paper. The levels of thyroid-stimulating hormone (TSH) were measured by time-resolved fluoroimmunoassay, and the serum levels of TSH, triiodothyronine (T(3)) and thyroxine (T(4)) were detected by chemiluminescence. Infants with CH confirmed by neonatal screening were treated with levothyroxine (L-T(4)) initiated with 4-6 g/kg x d(-1 )for 2-3 years. Growth, development and intelligence status, scintigraphy or ultrasonography of thyroid, and bone age were investigated to evaluate the efficacy of therapy during follow-ups. RESULT: A total of 1112784 neonates were screened for CH during 1999-2004 with a coverage rate of 63.5%. Of the 6750 suspected CH cases, 6335 (93.8%) were recalled. 764 cases of CH were confirmed with an average incidence rate of 1 case CH per 1457 newborns (1/1457). 244 of 764 patients were followed-up for more than 1.5-2 years. All of them received thyroid by scintigraphy or ultrasonography. Among them 189 cases were found with normal gland, 35 with hypogenetic gland, 11 with ectopic gland, and the remaining 9 didn't show any image of thyroid. The average score of development quotient (DQ) was 106. 9. Among them, the DQ score was less than 85 in 2 cases, less than 90 in 9 cases, less than 100 in 28 cases, and in 68 cases the DQ was greater than 100. The bone age of 122 CH infants was evaluated with the X-ray radiography. In 90 cases of them,the bone age was normal, and 32 cases had progressed from development delay to normal. The height and weigh measured in all 106 cases had reached the related age criteria. The evaluation indicated that 55 cases were found with primary CH, 169 with temporary CH and 20 with subclinical CH. CONCLUSION: Neonatal screening for CH and regular treatment for CH patients are important for attaining normal body development and intelligence development of patients.

[Multifactorial analysis of effects of mothers' autoimmune thyroid disease on their infants' intellectual development].

OBJECTIVE: To analyze factors relevant to retarded intellectual development in infants born to mothers with autoimmune disease of thyroid. METHODS: All the term newborns born to mothers with autoimmune thyroid disease (selection criteria) without asphyxia in all county, city, and provincial hospitals in Zhejiang province (except for Ningbo City) from July 2001 to June 2003 were enrolled through Zhejiang provincial neonatal disease screening network system. The control group was consisted of the neonates who were born to mothers without thyroid disease in these hospitals during the same period. Heel capillary blood samples were collected from the neonates older than 3 days in local hospitals and sent to the center of Zhejiang provincial neonatal disease screening network system. TSH levels were measured by Time Difference Fluorescent Analysis Device (1420 II type, EGG Company, US). If the level of TSH was higher than 9 mU/L, their mothers were called back to the center with their infants within 3 days. If the level of TSH was normal, they were called back to hospitals at age of 28 - 35 days of infants. The pattern of maternal thyroid disease, duration, thyroid function, the history of maternal drug administration, maternal age, gestational age and body weight of the neonates were recorded. The neonatal and maternal serum thyroid function tests were re-performed and the serum TPOAb, TGAb, TRAb and TSAb levels in both neonates and their mothers were measured as well. A 1-year follow-up study was done and all these subjects were investigated by means of Gesell development schedules by special investigators at the age of 1, 3, 6 and 12 months. The results were expressed as developmental quotient. Case-sectional study was performed. Statistical analyses were conducted using SPSS software. The multiple logistic regression analysis was used to analyze factors which might have effect on infantile personal-social ability, adaptive ability, gross motor ability or the fine-motor ability. One-way ANOVA was used to compare those five subfields ability followed by LSD multiple comparisons and Dunnet's C test was used when variances were not equal. Correlation analysis was used to compare the anti-thyroid antibody between neonates and their mothers. RESULTS: Poor personal-social ability, adaptive ability, gross motor ability and fine motor ability of infants born to mothers with autoimmune thyroid diseases were found as compared to the infants born to healthy mothers (P < 0.01). Moreover, the infants born to mothers with Hashimoto's thyroiditis had significantly poorer fine motor ability and adaptive ability than those born to mothers with Grave's disease (P < 0.05). The Spearman correlation coefficients of TPOAb, TGAb, TRAb and TSAb were 0.636, 0.574, 0.619 and 0.473, respectively, and all the P values were lower than 0.01.The multifactor logistic regression analysis showed that infantile TPOAb levels and maternal TRAb levels were associated with infantile personal-social ability, adaptive ability, and gross motor; while maternal TPOAb levels and thyroid function during gestation were associated with infantile fine-motor ability (P < 0.05). CONCLUSION: Maternal autoimmune thyroid diseases during pregnancy had adverse effects on intellectual development of infants. The maternal levels of TPOAb, TRAb and thyroid status were associated with the infantile personal-social ability, adaptive ability, gross motor and fine motor development. In order to reduce the effect on infant, it is necessary to treat adequately the maternal autoimmune thyroid diseases during pregnancy.