Objective To investigate the family function and features of parental attachment in children with tic disorders ,and to provide evidence for their family intervention. Methods Fifty three children with tic disorders and eighty five normal controls were investigated by family adaptability and cohesion scales, second edition, Chinese version (FACES Ⅱ-CV) and attachment security scale(Kems Security Scale). Results Actual cohesion scores,actual adaptability scores and ideal adaptability scores of the tic disorders children were all lower than those controls((66.87 12.53) vs (72. 14 11. 05) , (44. 19 9.70) vs (49.01 9.19), (52. 38 9. 10) vs (57.10 8.60), P<0.05, P<0.01); the ratio of the Disengaged type of cohesion in the tic disorders children was higher than that of normal controls(25.5% vs 5.9% , P<0.01) ;the ratio of the Rigid type of adaptability was higher than that of normal controls(55.3% vs 25.9% , P<0.01) ;the ratio of the Flexible type of adaptability was lower than that of normal controls( 12.8% vs 30.6% , P<0.05) ;the proportion of the type of extreme in the tic disorders children was higher than that of normal controls(40. 4% vs 23. 5% , P<0. 05). Father-dependence, mother-dependence, mother-intimacy, father-child attachment, mother-child attachment were all lower than those controls. In cases,positive correlation was found not only between actual cohesion scores and father-dependence, mother-dependence, mother-intimacy, father-child attachment, mother-child attachment, but also between actual adaptability scores and the above-mentioned five factors (0.291≤ r≤0.445,0. 301 ≤ r ≤0. 504). Mother-child attachment as an independent variable was separately leaded into the multiple progressively regression model for actual cohesion scores and actual adaptability scores(P<0.01). Conclusion The family function and parental attachment security of the tic disorders children were lower than the controls.

Objective To explore agreement between parent-child report of self-rating scale of systemic family dynamics (SSFD),as well as factors that may influence the agreement.Methods SSFD was used to investigate the agreement between parent and child reports on family dynamics in a sample of 639 Chinese children aged 10 to 18 years from Mainland China,and possible influence factors.Results The results showed that there was significant difference between parent-child report of SSFD.The parents had significant lower score than their children at atmosphere,individuation and disease conception and had higher score at system logic (all P＜0.01).But the two still had significant positive correlation (correlations ranging from 0.15 to 0.38),indicating a low to moderate agreement between them(r=-0.15-0.38,all P＜0.01).The age factor was related to parent-children agreement on SSFD.Parent-child agreement was highest for family atmosphere,followed by individuation,system logic and disease conception.The age factor was related to parent-child agreement on SSFD.Conclusions Both parents' and children's reports of SSFD can be used to assess family dynamics,however,attention should be payed to the affection of parent-child report's difference and age factor to the results.

Objective To investigate the clinical characteristics,treatment effect,long-term follow up results,guanosine triphosphate (GTP) cyrclohydrolase Ⅰ (GCH Ⅰ)gene and tyrosine hydroxylase(TH) gene mutations in patients with dopa-responsive dystonia (DRD).Methods The clinical features of 3 families with 4 affected members were analyzed and all of 4 patients were screened for mutations of the GCH Ⅰ gene and TH gene with DNA sequences.Results Four patients were females,average age at onset was (15.3 ± 5.6) years (range:from 9 to 20 years).The initial symptoms were a gait disorder,stiffness or tremor of the lower limbs in all patients presented with diurnal fluctuation.As the increase of disease duration,bilateral hand tremor was found in three patients,systemic torsion was found in one patient and torticollis was found in one patient.All patients' symptoms were in complete remission after administration of low dose of levodopa.Four patients were followed up for 0.5 to 10.0 years,and all were still responsive to the levodopa treatment and effective dosage was decreased as the increase of the disease duration.No longterm side effects of levodopa had occurred after long-term treatment.One patient was found to have c.607G ＞A(p,Gly203Arg) heterogenetic mutation in GCH I gene.Molecular analysis revealed a compound heterozygous mutation in the TH gene (p.Y447Ter and p.V468M) in one patient.No point mutations in both genes were found in other patients.Conclusions DRD patients have dramatic and sustained response to levodopa and no long-term side effects of levodopa after long-term treatment.The detection of GCH Ⅰ and TH gene mutations is helpful in early diagnosis but the negative results could not exclude the diagnosis of DRD.

ObjectiveTo explore the relationship of one-child attachment and parerttal attachment,as well as the effect of family income and parental education on children's attachment.Methods 350 children aged over 12 years from primary school grade 5 to high school grade 3 in Nanjing were selected in two classes each grade in cluster sampling method as research objects.These children and their parents were measured by General questionnaire,Experiences in Close Relationships Inventory( ECR ) and Adolescent Attachment Inventory.The data of the questionnaires were coded for statistical analysis-Pearson conrelation to analyze the relationship of one-child attachment and parental attachment and Analyze of variance to explore the influence of family income and parental education on children's attachment.ResultsThere was a significantly negative relation(r =-0.132,P=0.014)between one-child family negative dimension and mother avoidance dimension,and a significant correlation (r =0.131,P =0.015 ) between one-child family negative dimension and mother anxiety dimension.The interaction of family income and parental culture was significant in affinity attachment of one-child (F =3.641,4.052,P =0.006,0.003).ConclusionThis study finds that one-child is more attached to their mothers than their fathers.Family income and parental education affect the attachment of one-child.

Objective To investigate the family dynamic characteristics of adolescents with emotional disorder.Methods 74 adolescents with emotional disorder from Child Mental Health Research Center of Nanjing Brain Hospital Affiliated to Nanjing Medical University were chosen and compared with 148 gender- and agematched controls from schools in Nanjing.Self-rating scale of systemic family dynamics(SSFD) was used to assess the characteristics of family dynamics,and general demographic information inventory was conducted for all subjects.Results Adolescents with emotional disorder showed higher scores in family atmosphere and systemic logic than control group ( ( 30.54 ± 8.28 ) vs (23.45 ± 7.40),( 17.14 ± 4.26 ) vs ( 15.43 -± 3.86 ),all P ＜ 0.01 ).Logistic regression analysis showed that high individuation ( OR =0.903,95％ CI:0.834 ～ 0.977 ) and high disease thinking( OR =0.853,95％ CI:0.750 ～ 0.970 ) were protective factors for emotional disorder.High family atmosphere ( OR =1.167,95％ CI:1.101 ～ 1.236) was risk factor for emotional disorder.Conclusion Adolescents with emotional disorder demonstrate boring and hostile family atmosphere and Either/or family systemic logic on the family dynamic characteristics.Family atmosphere,disease thinking and individuation are associated with emotional disorder.

Objective To investigate the features of parental attachment in children with attention deficit hyperactivity disorder(ADHD).Methods Experience in Close Relationship Scale Revised(ECR-R),Relationship Questionnaire(RQ) and Homemade General Situation Table was conducted among 164 parents of ADHD and 328 parents of normal children.Results The attachment repretation in fathers of children with ADHD showed that autonomous(43.9％ ) was lower than those of the control group (52.4％),dismissing type (41.5％ ) was higher than the normal group (34.1％),preoccupied( 12.2％ ) was higher than those in the control group (8.0％),unresolved type (2.4％) was lower than those of the control group (5.5％),the difference was not statistically significant (P ＞ 0.05 ).The attachment repretation in mothers of children with ADHD showed that autonomous (40.2％) was lower than those of the control group (50.0％),dismissing type (30.5％) belowed the normal group (32.3％),preoccupied type ( 20.7％ ) higher than those in the control group ( 10.4％ ),unresolved type (8.5％) higher than those in the control group (7.3％),the difference was not statistically significant (P ＞0.05).Two groups had no statistical differences in paternal attachment anxiety,paternal attachment avoidance、maternal attachment anxiety and maternal attachment avoidance dimensions ( ( 3.44 + 0.97 ) vs ( 3.37 + 0.82 ),(3.70+0.57)vs(3.72 +0.57),(3.37+0.87) vs(3.36 +0.83),(3.74+0.68)vs(3.64±0.59),allP＞0.05).Conclusion There is no significant differences in the features of parental attachment between children with ADHD and normal children.

Objective To enhance clinicians' intention to the importance of early diagnosis,early therapy and follow-up of type Ⅱ citrullinemia.Methods The clinical data of one adult-onset type Ⅱ citrullinemia pedigree were collected. The gene mutation type of SLC25A13 of proband and her daughter were determined by PCR and direct gene sequencing.Results The patient was a 27 years-old female,who complained of repeated dizziness, vomiting for more than 2 years and recurrent attacks of altered consciousness for about one and a half year.An abdominal ultrasonogram,liver magnetic resonance imaging and liver histology obtained by needle biopsy all determined the liver pathological changes of liver cirrhosis.Electroencephalogram showed sharp waves. The plasma amino acid showed a marked elevation of blood citrulline.Laboratory findings revealed a highly increased concentration of plasma ammonia during every episode. Mutation analysis of the SLC25A13 gene identified a homozygote of 851del4 in the patient,and heterozygote of 851del4 in her daughter. Conclusions For adults,unexplained dizziness,vomiting,but liver function still in the compensation,especially accompanied by neuropsychologic symptoms are highly suggestive of adult-onset type Ⅱ citrullinemia.SLC25A13 gene analysis contributes to the diagnosis of this disease,avoids invasive investigations and early confirmation of this disease means long-term dietary advice,genetic counseling,medical surveillance and early preparation for liver transplantation if is necessary.

OBJECTIVETo explore the significance of SMN1 gene mutations among patients with spinal muscular atrophy (SMA) and the value of multiplex ligation dependent probe amplification (MLPA) for its diagnosis.

METHODSPotential mutations of the SMN1 gene were detected among 78 SMA patients with a MLPA assay.

RESULTSHomozygous deletion of SMN1 exons 7 and 8 was detected in 70 (89.7%) of all patients. Homozygous deletion of exons 7 and heterozygous deletion of exon 8 was detected in 3 patients (3.8%). Homozygous deletion of SMN1 exons 7 alone was detected in 3 patients (3.8%). Heterozygous deletion of SMN1 exons 7 and 8 was detected in 2 patients (2.6%). For 77 of the patients, both parents were found to carry heterozygous deletion of the SMN1 gene, which was consistent with the recessive inheritance of SMA. One patient with SMA type I was found to be rather rare. The patient was found to carry homozygous deletion of SMN1 exons 7 and 8, for which her mother was heterozygous, while no mutation was found in her father.

CONCLUSIONHomozygous deletion of the SMN1 gene have been detected in more than 95% of SMA patients. No homozygous deletion of exon 8 has been found. Homozygous deletion of exon 7 is more significant in the pathogenesis of SMA.

Exons ; Female ; Gene Deletion ; Humans ; Male ; Multiplex Polymerase Chain Reaction ; Muscular Atrophy, Spinal ; genetics ; Mutation ; Survival of Motor Neuron 1 Protein ; genetics

Objective To explore the correlation between serum lipoprotein-associated phospholipase A2 (Lp-PLA2) level with the occurrence of ischemic stroke and prognosis in the patients with hypertension . Methods Eighty-eight patients with hypertension in this hospital from January 2013 to January 2016 were se-lected ,including 34 cases of simple hypertension and 54 cases of hypertension complicating ischemic stroke . The Lp-PLA2 level was detected .The severity of ischemic stroke was evaluated on 1 ,14 d after admission by adopting the NIHSS .The patients with hypertension complicating ischemic stroke were divided into the good prognosis group and poor prognosis group according to the NIHSS change situation .Moreover the independent predictive factors of prognosis were evaluated by adopting the Logistic multivariate regression .Results The Lp-PLA2 level in the patients with hypertension complicating ischemic stroke was significantly higher than that in the patients with simple hypertension .The Lp-PLA2 level (OR=1 .523 ,95％ CI=1 .323-1 .657) and NIHSS score (OR=3 .275 ,95％ CI=1 .402 -6 .208) at admission were the independent predictive factors of poor prognosis .Conclusion Serum Lp-PLA2 level is closely correlated with the occurrence and prognosis of ische-mic stroke in the patients with hypertension ,which can serve an evaluation index for the occurrence and prognosis of ischemic stroke in the patients with hypertension and provides an objective basis for the clinical therapy .

OBJECTIVE: To analyze the clinical, familial and hereditary features of myotonic dystrophy to improve the knowledge and provide molecule evidence for gene diagnosis and prenatal diagnosis of myotonic dystrophy or dystrophia myotonia (DM) families. METHODS: Clinical data of 2 DM families were collected based on the probands. The number of trinucleotide CTG repeat in the 3' untranslated region of myotonic dystrophy protein kinase (DMPK) gene on chromosome 19 was determined by DNA sequence and repeat fragment. RESULTS: Except for 1 subclinical patient, another 5 patients progressed slowly with the features of myotonic muscular weakness and atrophy. One patient had hatchet face, 1 had cataract and diabetes mellitus, and the other 3 were bald. Electromyologram showed 3 patients had myotonic discharge and myopathic abnormalities. The number of trinucleotide CTG repeat in the 3' untranslated region of DMPK gene of 5 patients exceeded 50. CONCLUSION DM can be anticipated. Gene analysis can verify the disease and identify subclinical patients. It helps to prevent the DM births by hereditary consultation performing prenatal diagnosis.
Adolescent ; Adult ; Female ; Humans ; Male ; Myotonic Dystrophy ; diagnosis ; genetics ; Myotonin-Protein Kinase ; Pedigree ; Polymerase Chain Reaction ; methods ; Protein-Serine-Threonine Kinases ; genetics ; Trinucleotide Repeats