Clinical presentation of 13 children with alkaptonuria.

Until now, only a few studies have focused on the early onset of symptoms of alkaptonuria (AKU) in the pediatric population. This prospective, longitudinal study is a comprehensive approach to the assessment of children with recognized AKU during childhood. The study includes data from 32 visits of 13 patients (five males, eight females; age 4-17 years) with AKU. A clinical evaluation was performed with particular attention to eye, ear, and skin pigmentation, musculoskeletal complaints, magnetic resonance imaging (MRI), and ultrasound (US) imaging abnormalities. The cognitive functioning and adaptive abilities were examined. Molecular genetic analyses were performed. The most common symptoms observed were dark urine (13/13), followed by joint pain (6/13), and dark ear wax (6/13). In 4 of 13 patients the values obtained in the KOOS-child questionnaire were below the reference values. MRI and US did not show degenerative changes in knee cartilages. One child had nephrolithiasis. Almost half of the children with AKU (5/13) presented deficits in cognitive functioning and/or adaptive abilities. The most frequent HGD variants observed in the patients were c.481G>A (p.Gly161Arg) mutation and the c.240A>T (p.His80Gln) polymorphism. The newly described allele of the HGD gene (c.948G>T, p.Val316Phe) which is potentially pathogenic was identified.

Exploring the key drivers of responsive parenting in mothers and fathers - observed and self-reported responsiveness.

BACKGROUND: This article explores parental responsiveness - the ability of a parent to react to a child's needs adequately, promptly, and with tenderness and synchrony. Parental responsiveness can be measured using observational and self-report scales. The purpose of this study was to explore whether individual differences in empathy and attachment in mothers and fathers and their satisfaction with their relationship are predictors of parental responsiveness toward infants. Moreover, self-report and observational measures of parental responsiveness were compared. PARTICIPANTS AND PROCEDURE: A total of 110 triads (mother, father, and child aged 6-10 months) took part in the free play procedure and parents' behaviors towards their children were assessed using the Ainsworth Sensitivity Scale. Moreover, they filled out a set of questionnaires measuring parental self-reported responsiveness, empathy, experiences in close relationships and romantic relationship satisfaction. RESULTS: Higher empathic concern was connected with higher responsiveness and this was seen in both individual and partner measures. At the individual level, measures of responsiveness (self-report and observational) were not congruent and probably depended on other variables. In couples, there were positive correlations in three aspects of their family functioning: observed and self-reported parental responsiveness as well as relationship satisfaction. CONCLUSIONS: This study revealed differences between self-reported and observational measures of parental responsiveness, indicating that their results may not always be congruent and could depend on other variables.

Unraveling the link between family of origin and parental responsiveness toward own child.

This study investigates the influence of family of origin on parental responsiveness toward own child, taking into account gender differences. A total of 110 triads of mothers, fathers, and their first child aged 6-10 months participated in the standardized Free Play procedure. Parental responsiveness was assessed through observational measures (using Ainsworth procedure) and self-reported scales (Parental Responsiveness Scale). Results revealed correlations between objectively assessed responsiveness and self-reported parental styles in the family of origin, separately for mothers and fathers. Among mothers having daughters, parental sensitivity (an important aspect of observationally measured responsiveness) was positively correlated with having had a liberal loving mother and a negative correlation with an autocratic mother. Cooperation (another aspect of observationally measured responsiveness) was correlated positively with having had a liberal loving mother. Meanwhile, having a liberal unloving mother predicted lover sensitivity and cooperation. Similar correlations were not observed for mothers having sons. Among fathers having daughters, both aspects of observed responsiveness were positively correlated with having had a democratic father and negatively with autocratic or liberal unloving parents. Moreover, having a liberal unloving father and autocratic mother predicted their lower responsiveness toward daughters. These findings highlight the role of family dynamics in shaping parental responsiveness and emphasize the importance of understanding these dynamics in promoting responsive parenting.

Attention deficit in primary-school-age children with attention deficit hyperactivity disorder measured with the attention network test: a systematic review and meta-analysis.

Objective: To review and meta-analyze patterns of attention deficit in primary-school-age children with ADHD measured with the neuropsychological attention network test (ANT). Methods: Six electronic databases were searched to 5.05.2022. Selection criteria included prospective cohort and intervention studies; ANT used; primary-school-age; diagnosis of ADHD/at high risk. Results: Seven studies met inclusion criteria (N = 3,826). Compared with controls, children with ADHD had higher scores for Reaction Time (Hedges' g = 0.433; 95% CI: 0.135-0.731), Reaction Time Variability (Hedges' g = 0.334; 95% CI: 0.012-0.657), and Alerting Network (Hedges' g = 0.235; 95% CI: 0.021-0.449) while children at high risk had higher Alerting Network scores (Hedges' g = 0.176; 95% CI: 0.003-0.349) and Correctness scores (Hedges' g = 1.956; 95% CI: 0.020-3.892). Conclusions: Children with ADHD and at risk of ADHD had different ANT results from children without ADHD only for the alerting network. There were no significant differences for executive and orienting outcomes. Children at risk of ADHD also made more errors (commission and omission) measured with the ANT compared with children without ADHD. Reaction time was longer and reaction time variability higher in children with ADHD than in children without ADHD, and in children at risk of ADHD compared with children without ADHD. Preregistration: A protocol has been registered with the International Prospective Register of Systematic Reviews (PROSPERO) database (registration number: CRD42021249768).

The Effects of the COVID-19 Pandemic on the Parenting of Infants: A Couples Study.

(1) Background: The COVID-19 pandemic has led to many negative changes in everyday functioning. This study aimed to establish how it impacts parental responsiveness towards their children; (2) Methods: 132 couples (N = 264) who were parents of young children (from 3 to 24 months; M = 12.61; SD = 6.71) participated in this study. The Parental Responsiveness Scale was used to measure parental responsiveness toward their own child and the Polish adaptation of the My Emotions Scale was used to measure emotional reactions to the child's cry. We collected data about perceived stress, fear of being affected by COVID-19, and emotional overload caused by the pandemic. An analysis using actor-partner interdependence models was carried out; (3) Results: there were actor effects for both parental responsiveness and reactions to the child's cry (for all measured aspects (frustration, amusement, anxiety, empathy, sympathy)). For women, parental responsiveness was a negative partner effect of stress, and for men, there was a positive effect of fear of being infected, emotional overload, and stress; (4) Conclusions: these results show how important it is to take care of families and investigate the effects of the pandemic on their functioning.

Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach.

Sanfilippo syndrome, or mucopolysaccharidosis type III (MPS III), is a disease grouping five genetic disorders, four of them occurring in humans and one known to date only in a mouse model. In every subtype of MPS III (designed A, B, C, D or E), a lack or drastically decreased activity of an enzyme involved in the degradation of heparan sulfate (HS) (a compound from the group of glycosaminoglycans (GAGs)) arises from a genetic defect. This leads to primary accumulation of HS, and secondary storage of other compounds, combined with changes in expressions of hundreds of genes and many defects in organelles and various biochemical processes in the cell. As a result, dysfunctions of tissues and organs occur, leading to severe symptoms in patients. Although changes in somatic organs are considerable, the central nervous system is especially severely affected, and neurological, cognitive and behavioral disorders are the most significant changes, making the disease enormously burdensome for patients and their families. In the light of the current lack of any registered therapy for Sanfilippo syndrome (despite various attempts of many research groups to develop effective treatment, still no specific drug or procedure is available for MPS III), optimizing care with a multidisciplinary approach is crucial for managing this disease and making quality of patients' life passable. This includes efforts to make/organize (i) accurate diagnosis as early as possible (which is not easy due to various possible misdiagnosis events caused by similarity of MPS III symptoms to those of other diseases and variability of patients), (ii) optimized symptomatic treatment (which is challenging because of complexity of symptoms and often untypical responses of MPS III patients to various drugs), and (iii) psychological care (for both patients and family members and/or caregivers). In this review article, we focus on these approaches, summarizing and discussing them.

Relationship between growth and intelligence quotient in children with Down syndrome.

Background: The relationship between intelligence quotient (IQ) and somatic development, especially growth, has been demonstrated in various groups of children. Down syndrome (DS) is characterized by short stature, overweight, and cognitive impairment. The objective of our work was to assess whether anthropometric measurements [weight, height, body mass index (BMI)] of children with DS correlate with their IQ. The results of the study may be valuable for this population in the light of increasing access to growth hormone therapy (GHT) in various genetic syndromes with short stature. Based on previous studies on children, we hypothesized that a link exists between IQ and somatic development, particularly growth. Methods: This cross-sectional study included 40 children with DS, who were aged 9-18 years. The studied population was selected from the registry of the Genetic Clinic at the University Clinical Center in Gdansk (Poland). Anthropometric measurements (weight and height) were taken for all the children, and their BMI was determined using these data. The obtained results were plotted on charts for children with DS. The IQ of the children was assessed using the Stanford Binet Intelligence Scale, Fifth Edition. The correlations between IQ and anthropometric data were analyzed using univariate correlation and multiple regression analyses. Results: The results showed that full-scale, verbal, and nonverbal IQ correlated with height percentile (P=0.03, P=0.02, and P=0.04, respectively), but not with weight (P=0.26, P=0.19, and P=0.61, respectively) or BMI (P=0.6, P=0.5, and P=0.72, respectively). In multiple linear regression analysis, height percentile remained as an independent determinant of the IQ results after adjusting for birth weight, hypothyroidism with L-thyroxine replacement therapy, and congenital cardiac defect (ß=0.48, P=0.018). Conclusions: The results of our study suggest an association between growth and IQ in children with DS. The presented findings may be valuable for improving access to GHT for populations with genetic syndromes characterized by short stature. However, these should be confirmed by further research with a longitudinal sample of children with DS.

Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene.

Mucopolysaccharidosis type IIIB (MPS IIIB or Sanfilippo syndrome type B) is an inherited metabolic disease caused by mutations in the NAGLU gene, encoding α-N-acetylglucosaminidase. Accumulation of undegraded heparan sulfate (one of glycosaminoglycans) arises from deficiency in this enzyme and leads to severe symptoms, especially related to dysfunctions of the central nervous system. Here, we describe a case of two siblings with highly diverse phenotypes, despite carrying the same mutations (c.1189 T > G/c.1211G > A (p.Phe397Val/p.Trp404Ter)) and similar residual activities of α-N-acetylglucosaminidase; the younger patient reveals more severe phenotype; thus, these differences cannot be explained by the age and progression of the disease. Surprisingly, the whole exome sequencing analysis indicated the presence of an additional mutation in one allele of the AUTS2 gene (c.157G > A (p.Ala53Thr)) in the younger patient but not in the older one. Since mutations in this gene are usually dominant and cause delayed development and intellectual disability, it is likely that the observed differences between the MPS IIIB siblings are due to the potentially pathogenic AUTS2 variant, present in one of them. This case confirms also that simultaneous occurrence of two ultra-rare diseases in one patient is actual, despite a low probability of such a combination. Moreover, it is worth noting that apart from the genotype-phenotype correlation and the importance of the residual activity of the deficient enzyme, efficiency of glycosaminoglycan synthesis and global secondary changes in expression of hundreds of genes may considerably modulate the course and severity of MPS, especially Sanfilippo disease.

Validation of the Parental Responsiveness Scale.

BACKGROUND: Parental responsiveness is a parent's predisposition to react to their child's verbal and non-verbal cues promptly and adequately. There is no self-report scale that measures this type of behavior. The aim of this study was to construct a valid and useful scale to measure this construct as subjectively reported by parents of young children. PARTICIPANTS AND PROCEDURE: Two hundred and fifty parents (including 186 mothers) of young children aged from 1 to 18 months (Mage = 8.60, SDage = 4.06) took part in the study. To confirm the external validity of the tool, participants filled in the following questionnaires: the Parental Responsiveness Scale, the Empathic Sensitivity Scale, and the Experience in Close Relationships-Revised Scale - short version. RESULTS: The confirmatory analysis verified the one-dimensional structure and that the model has a good fit. Moreover, the results of external validation indicated satisfactory correlations between parental responsiveness and empathic concern (r = .30, p < .01), perspective-taking (r = .31, p < .01), and avoidance (r = .23, p < .01) in relationships. CONCLUSIONS: The Parental Responsiveness Scale is valid and reliable. This scale could be useful in research on family and child development, and on individual differences between parents, but can also be of use in practice.

Offering Psychological Support to University Students in Poland During the COVID-19 Pandemic: Lessons Learned From an Initial Evaluation.

This perspective article aims to present insights into an initiative to provide free psychological support to students at the University of Gdansk (UG) - one of the first universities in Poland to offer such help - during the first major COVID-19 pandemic lockdown in March 2020. We begin by introducing key psychological consequences of the pandemic, with particular emphasis on university students, according to Pandemic Management Theory (PMT). Next, we highlight the most significant challenges reported to us by the students in response to the support initiative and applied psychological interventions (including psychoeducation, relaxation, arranging day plans, taking care of relationships, and "just" talking). We conclude by reflecting on the challenges for mental health posed by the COVID-19 pandemic as well as the outcome of our initiative - the creation of the Academic Psychological Support Centre at the University of Gdansk. These insights and lessons learned from developing our practice can help enhance the effectiveness of future psychological support programs through the pandemic and beyond.

(Re-)activity in the caregiving situation: Genetic diversity within Oxytocin-Vasopressin Pathway is associated with salivary oxytocin and vasopressin concentrations in response to contact with a crying infant-simulator.

Oxytocin (OT) and vasopressin (AVP) hormones as well as their receptors (OXTR and AVPR1a) have been deemed crucial for caregiving and sensitive responsiveness to infant cues. However, previous research on genetic polymorphisms and OT and AVP levels in the context of caregiving were sparse and have brought contradictory findings. The aim of this reported observational study was to examine the impact of genetic variations within genes related to OT and AVP signaling pathway on hormones levels' changes in response to the caregiving situation. A total of 221 adult intimate couples (110 childless, non-pregnant and 111 expectant couples) participated in three 10 min sessions, during which they were taking care of a crying life-like simulator. 30 min prior to the first session salivary samples to analyze basal OT and AVP, and polymorphisms in OXTR, AVPR1a and CD38 genes were collected. Subsequent OT and AVP levels were measured 15 min after each session. The two most frequently studied OXTR SNPs (rs53576 and rs2254298) had no or a minor impact on higher OT levels, which were linked to rs1042778, rs13316193, rs2228485, rs2268490, rs4686302 genotypes. AVP levels were affected by rs1042778, rs13316193, rs4686302 and rs237887. OT levels varied depending on the OT (rs2770378, rs4813625), CD38 (rs379686), and 5-HTR2A (rs6314) genotype. OT and AVP levels were also associated with rs6314 (5-HTR2A). AVP levels were linked to ESR1 (rs1884051) and SIM1 (rs3734354) variations. Shorter variants of RS3 and RS1 were associated with lower levels of AVP. In conclusion, analyzed polymorphisms were associated with both the level and changes in OT and AVP hormone levels in the standardized situation of caregiving reactions to infant crying.

Empathy and Hormonal Changes as Predictors of Sensitive Responsiveness towards Infant Crying: A Study Protocol.

Sensitive responsiveness refers to parents' ability to recognize and respond to infants' cues and has been linked to parental empathy. Additionally, oxytocin (OT) and vasopressin (AVP) are hormones important for sensitivity and empathy. The aim of this study is to test the links between dispositional empathy along with changing OT and AVP levels and responsiveness to a life-like doll in couples and to verify whether these factors are predictors of responsiveness to a child's cues. Exploratory analyses include predictors of sensitive responsiveness: polymorphisms of OXTR, AVPR1a and CD38 genes, personal characteristics and relational factors. The project employs standardized experimental settings that can be used with non-parents and the assessment of parental sensitive responsiveness towards their child. The participants are couples expecting their first child (111) and childless couples (110). The procedure involves caretaking of a life-like doll. Salivary samples and questionnaire data are collected in a planned manner. In the second part, the expectant couples are invited for the assessment of their sensitivity to their own child (Free Play episodes). Parental sensitivity is assessed using the Ainsworth Sensitivity Scale. This paper presents an interdisciplinary research project that reaches beyond the questionnaire measurement, considering many factors influencing the dynamics of adult-infant interaction.

Do Physical Activity and Personality Matter for Hair Cortisol Concentration and Self-Reported Stress in Pregnancy? A Pilot Cross-Sectional Study.

BACKGROUND: Physical activity reduces psychosocial stress in pregnant women. Stress levels might be self-reported (psychosocial) or measured with biomarkers, one of which is hair cortisol concentration (HCC). Additionally, personality has been associated with stress and physical activity. METHODS: The first aim of our study was to explore the differences in self-reported stress assessed by the Perceived Stress Scale (PSS) and in HCC with regard to physical activity level in pregnant (N = 29) and non-pregnant (N = 21) women. The second aim was to analyze the correlations among perceived stress, HCC, frequency of exercise and personality in the two groups separately. RESULTS: There was a significant difference in frequency of exercise and self-reported stress between the two groups, with a lower level in pregnant women, but no differences in HCC and in personality were found. In the group of pregnant women, there was a significant negative correlation between HCC and frequency of exercise sessions, with the latter correlating positively with openness to experience. In the group of non-pregnant women, perceived stress negatively correlated with extraversion, agreeableness and emotional stability. HCC correlated negatively with conscientiousness. CONCLUSIONS: Our findings indicate the importance of physical activity programs dedicated to pregnant women for their life quality.