RESUMO
Methadone is used as a substitute for illicit opioids during pregnancy. However, the real effect of this molecule on visual and neurodevelopmental outcomes of the children exposed is not fully understood, since studies considered subjects born to polydrug-dependent mothers and followed for few months/years. We report the long-term outcomes of two infants with congenital nystagmus solely exposed to methadone in utero. Neurological and neurovisual evaluations were performed every year from the first year of life to 11 years of age. One child was diagnosed with developmental coordination disorder. Both cases presented with ophthalmologic (refractive errors), oculomotor (nystagmus and fixation, smooth pursuit, and saccades dysfunctions), and perceptive problems (reduced visual acuity and contrast sensitivity). While nystagmus and other oculomotor dysfunctions remained stable over time, visual acuity and contrast sensitivity improved; refractive errors worsened and required corrective lenses. Both children showed normal neurodevelopmental and cognitive profile. This report highlights the long-term visual and developmental outcomes of two children exclusively exposed to methadone underlining the possibility of a visual dysfunction and motor coordination disorder. These observations prompt the need to investigate prenatal drug exposure as a cause of congenital nystagmus.
Assuntos
Metadona , Nistagmo Congênito , Efeitos Tardios da Exposição Pré-Natal , Erros de Refração , Criança , Feminino , Humanos , Lactente , Gravidez , Metadona/efeitos adversos , Nistagmo Congênito/induzido quimicamente , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Transtornos da Visão/induzido quimicamente , Transtornos da Visão/diagnósticoRESUMO
Oculocutaneous albinism (OCA) is a group of rare, genetic disorders caused by absent/reduced melanin biosynthesis. The aim of this study was to explore the neurovisual, cognitive, adaptive, and behavioral profile of children affected by OCA, also evaluating any possible effect of the visual acuity deficit on the clinical profile and genotype-phenotype correlations. Eighteen children (9 males, mean age 84 months ± 41; range 18-181 months) with a molecular confirmed diagnosis of OCA were enrolled in the study. We collected data on clinical history, neurodevelopmental profile, neurological and neurovisual examination, and cognitive, adaptive, and emotional/behavioral functioning. A global neurodevelopmental impairment was detected in 56% of the children, without evolving into an intellectual disability. All the patients showed signs and symptoms of visual impairment. Low adaptive functioning was observed in 3 cases (17%). A risk for internalizing behavioral problems was documented in 6 cases (33%), for externalizing problems in 2 (11%), and for both in 5 (28%). Twelve children (67%) showed one or more autistic-like features. Correlation analyses revealed significant associations between the visual acuity level and performance intelligence quotient (p = 0.001), processing speed index (p = 0.021), Vineland total score (p = 0.020), Vineland communication (p = 0.020), and socialization (p = 0.037) domains. No significant correlations were found between genotype and phenotype. CONCLUSION: Children with OCA may present a global neurodevelopmental delay that seems to improve with age and emotional/behavioral difficulties, along with the well-known visual impairment. An early neuropsychiatric evaluation and habilitative training are recommended to improve vision-related performance, neurodevelopment, and any psychological difficulties. WHAT IS KNOWN: ⢠Children with oculocutaneous albinism show dermatological and ophthalmological problems. ⢠An early visual impairment may have negative implications on motor, emotional, and cognitive processes that would allow the child to organize his or her experiences. WHAT IS NEW: ⢠In addition to a variable combination of ocular signs and symptoms, children with oculocutaneous albinism may present an early neurodevelopmental delay and emotional/behavioral difficulties. ⢠An early visual treatment is recommended to improve vision-related performance, neurodevelopment, and any psychological difficulties.
Assuntos
Albinismo Oculocutâneo , Masculino , Feminino , Humanos , Albinismo Oculocutâneo/complicações , Albinismo Oculocutâneo/diagnóstico , Albinismo Oculocutâneo/genética , Acuidade Visual , Estudos de Associação Genética , Emoções , Transtornos da VisãoRESUMO
AIM: The aim of this study was to detail the neurodevelopmental profile of subjects affected by ocular albinism (OA) and to collect data on GPR143 gene analysis. DESIGN: The design of the study involves a retrospective longitudinal observational case series. METHODS: We collected data on the neurodevelopmental profile of 13 children affected by OA from clinical annual assessments conducted for a period of 6 years after the first evaluation. We described visual profile, neuromotor development and neurological examination, cognitive profile, communication and language skills and behavioral characteristics. The GPR143 gene analysis was performed as well. RESULTS: Children presented a variable combination of ocular and oculomotor disorders unchanged during the follow-up, a deficit in visual acuity and in contrast sensitivity that progressively improved. Abnormalities in pattern visual evoked potential were found. No deficits were detected at neurological examination and neuromotor development except for a mild impairment in hand-eye coordination observed in five cases. A language delay was observed in five cases, two of whom had also a developmental quotient delay at 2 years evolving to a borderline/deficit cognitive level at preschool age, difficulties in adaptive behavior and autistic-like features were found. Mutations in the GPR143 gene were identified in the two patients who presented the most severe clinical phenotype. CONCLUSION: Children with OA may share, in addition to a variable combination of ocular signs and symptoms, a neurodevelopment impairment regarding mostly the cognitive, communicative, and social area, especially those with GPR143 mutation.
Assuntos
Albinismo Ocular , Albinismo Ocular/genética , Pré-Escolar , Potenciais Evocados Visuais , Proteínas do Olho/genética , Humanos , Glicoproteínas de Membrana/genética , Estudos RetrospectivosRESUMO
BACKGROUND: Systemic sclerosis (SSc) is a chronic immune-mediated connective tissue disease that can affect women of childbearing age. The long-term outcomes of their offspring remain poorly explored. Aim of this study was to detail the neurodevelopmental profile of children born to SSc mothers. METHODS: Twenty children (mean age: 96 ± 4.32 months; 10 males) born to SSc mothers were enrolled. We collected data on clinical history, neurological examination, cognitive profile and adaptive behavior in all subjects. According to the chronological age, we also investigated quality of life, behavioral characteristics, psychological functioning and self-image. RESULTS: All the children had normal neurological examination, cognitive profile and adaptive functioning, except for one (5 %) who suffered from Autism Spectrum Disorder. An important discrepancy was observed between parental and child opinion regarding the perception of quality of life, more compromised in the latter. We documented a risk for internalizing behavioral problems in 2 cases (10 %), for externalizing problems in 3 (15 %), for both in 1 (5 %) and for social and out-of-school activities in 5 (25 %). As regards psychological functioning, evaluated in 11 children, three (28 %) were at risk for anxiety, 1 (9 %) for depressive disorders and other 4 (36 %) for somatic disturbances. Emotional fragility and poor competence in metabolizing one's emotional experiences were observed in 9 out of the 13 subjects assessed (70 %). CONCLUSIONS: Children born to SSc women exhibit normal cognitive and adaptive abilities but an increased vulnerability to psychopathological problems and fragility in social functioning. These observations might reflect that children need to feel mature to accept maternal chronic disease that, in turn, may hinder support for offspring's social and emotional development.
Assuntos
Transtorno do Espectro Autista , Escleroderma Sistêmico , Criança , Masculino , Humanos , Feminino , Transtorno do Espectro Autista/epidemiologia , Qualidade de Vida , Mães/psicologia , Adaptação Psicológica , Escleroderma Sistêmico/epidemiologiaRESUMO
BACKGROUND: Angelman syndrome (AS) is a rare neurogenetic disorder caused by altered expression of the maternal copy of the UBE3A gene. Together with motor, cognitive, and speech impairment, ophthalmological findings including strabismus, and ocular fundus hypopigmentation characterize the clinical phenotype. The aim of this study was to detail the neurovisual profile of children affected by AS and to explore any possible genotype-phenotype correlations. METHODS: Thirty-seven children (23 females, mean age 102.8 ± 54.4 months, age range 22 to 251 months) with molecular confirmed diagnosis of AS were enrolled in the study. All underwent a comprehensive video-recorded neurovisual evaluation including the assessment of ophthalmological aspects, oculomotor functions, and basic visual abilities. RESULTS: All children had visual impairments mainly characterized by refractive errors, ocular fundus changes, strabismus, discontinuous/jerky smooth pursuit and altered saccadic movements, and/or reduced visual acuity. Comparing the neurovisual profiles between the deletion and non-deletion genetic subgroups, we found a significant statistical correlation between genotype and ocular fundus hypopigmentation (p = 0.03), discontinuous smooth pursuit (p < 0.05), and contrast sensitivity abnormalities (p < 0.01) being more frequent in the deletion subgroup. CONCLUSIONS: Subjects affected by AS present a wide spectrum of neurovisual impairments that lead to a clinical profile consistent with cerebral visual impairment (CVI). Moreover, subjects with a chromosome deletion show a more severe visual phenotype with respect to ocular fundus changes, smooth pursuit movements, and contrast sensitivity. Early detection of these impaired visual functions may help promote the introduction of neurovisual habilitative programs which can improve children's visual, neuromotor, and cognitive outcomes.
Assuntos
Síndrome de Angelman , Hipopigmentação , Transtornos da Motilidade Ocular , Estrabismo , Feminino , Humanos , Síndrome de Angelman/complicações , Síndrome de Angelman/genética , Transtornos da Visão/genética , Transtornos da Visão/complicações , Transtornos da Motilidade Ocular/genética , Transtornos da Motilidade Ocular/diagnóstico , Hipopigmentação/complicaçõesRESUMO
Key Clinical Message: Baricitinib, a Janus kinase inhibitor (JAK-inhibitor), seems to contribute to an improvement of a child affected by Aicardi-Goutières syndrome (AGS), reducing the interferon score and determining a recovery of cognitive, communicative, and relational dysfunctions, while the gross motor deficit persisted. Abstract: We report the treatment response to baricitinib, a JAK-inhibitor, in a 4-year-old girl affected by Aicardi-Goutières syndrome (AGS2, RNASEH2B mutation). Using quantitative measures, we detected a significant amelioration characterized by a complete recovery of cognitive, communicative, and relational skills after 8 and 16 months from the beginning of therapy.
RESUMO
BACKGROUND: Sleep disturbances are common in children affected by Autism Spectrum Disorder (ASD). The aim of our study was to describe sleep characteristics and disturbances in children with ASD, to evaluate possible related factors, and to assess parental stress. METHODS: Hundred children with a diagnosis of ASD (mean age: 66.7 months, SD: 27.4, range: 24.7-152.1 months, n = 79 males) were included in the study. We collected data on sociodemographic, clinical, genetic and instrumental variables as well as comorbid conditions. Parents filled out the Questionnaire on sleep behavior in the first years of life, the BEARS questionnaire, and the Parenting Stress Index Short Form. From the analysis on sleep characteristics, we excluded 25 children treated with melatonin. RESULTS: Fifty-seven (57%) out of 100 children met the criteria for insomnia. Sleep disorders were associated with developmental or cognitive delay, emotional and behavioral problems (such as anxiety problems and aggressive behaviors) and absence of strategies for inducing sleep after nocturnal awakenings. From parents' reports, sleep disorders had diurnal repercussions on their offspring; however, we found no statistical correlation between disturbances and family stress. Also, no significant correlation was found between sleep disturbances and epilepsy. Finally, a statistical correlation was found between the regular intake of melatonin and the resolution of insomnia. CONCLUSIONS: Multifactorial variables may be associated to insomnia that could have an impact on the children' behavior. Clinicians need to be aware of the value of screening for sleep disturbance in children with ASD to integrate sleep interventions in the treatment plan.
RESUMO
BACKGROUND: Stress factors associated with migration may expose minor immigrants to mental health problems. The aim of the study was to describe acute psychiatric problems, in terms of reasons for hospitalization and diagnosis at discharge, in a sample of Italian and Migrant adolescents (both first and second generation). METHODS: We collected data on socio-demographic and clinical-diagnostic characteristics of 423 Italian and Migrant adolescents (mean age: 15 years ± 1.44; range 12-17.91), hospitalized at the Child and Adolescent Neuropsychiatry Unit of the Spedali Civili of Brescia between 2014 and 2019, period prior to the coronavirus disease 19 (COVID-19) pandemic. RESULTS: A reduction in the percentage of hospitalized Italian subjects and an increase of Migrant ones was found among years (p<0.001). Suicidal attempts and psychomotor agitation were the main reasons for hospitalization in both Italian and Migrant groups; in addition, the former presented a higher number of accesses for eating disorders, while the latter for psychotic disorders. Comparing the two groups at discharge, a higher frequency of anxiety disorders (p<0.001), eating disorders (p<0.001), somatic and conversion disorders (p=0.013), and obsessive-compulsive disorder (p=0.022) was detected in the Italian sample; conversely, there was a higher frequency of suicidal attempt (p=0.025), personality disorders (p<0.001), disruptive behavior, impulse control and conduct disorders (p=0.014), and post-traumatic stress disorder (p=0.019) in the Migrant group. CONCLUSIONS: These observations, carried out during a pre-COVID-19 period, provide a starting point for understanding the psychopathology of Migrant adolescents and underline the importance of early diagnosis to guide appropriate interventions.
RESUMO
Background: Cerebral Visual Impairment (CVI) is a very common finding in children affected by Cerebral Palsy (CP). In this paper we studied the characteristics of CVI of a large group of children with CP and CVI, describing their neurovisual profiles according to three different age subgroups (subgroup 1: infants 6 months-2 years; subgroup 2: pre-school age 3-5 years; subgroup 3: school age ≥ 6 years). Methods: We enrolled 180 subjects (104 males, mean age 66 ± 42.6 months; range 6-192 months) with CP and CVI for the study. We carried out a demographic and clinical data collection, neurological examination, developmental or cognitive assessment, and a video-recorded visual function assessment including an evaluation of ophthalmological characteristics, oculomotor functions, and basic visual functions. In school-aged children, we also performed an evaluation of their cognitive-visual profiles. Results: There were signs of CVI in all the three subgroups. Subgroup 1 (62 children) and subgroup 2 (50 children) were different for fixation (p = 0.02), visual acuity (p = 0.03) and contrast sensitivity (p < 0.01), being more frequently impaired in younger children. Comparing subgroup 2 with subgroup 3 (68 children), the older children presented more frequently myopia (p = 0.02) while the younger ones esotropia (p = 0.02) and alteration in smooth pursuit (p = 0.03) and saccades (p < 0.01). Furthermore, fixation, smooth pursuit, visual acuity, contrast sensitivity and visual filed (p < 0.01) were more frequently impaired in younger children (subgroup 1) compared to the older ones. Multiple correspondence analysis (MCA) confirmed the different neurovisual profiles according to age: younger children with CP showed more signs of CVI compared to the older ones. 34 out of 68 children belonging to subgroup 3 underwent the cognitive visual evaluation; an impairment of cognitive visual skills was detected in 21 subjects. Conclusion: Younger children with CP showed more signs of CVI compared to the older ones, likely for the physiological maturation of visual system and mechanisms of neuroplasticity. In this direction, we suggest an early neurovisual evaluation to detect any weak visual functions.
RESUMO
The present study aimed at assessing whether children with Cerebral Palsy (CP) can imagine object directed actions similarly to their normally developed peers. We asked children with CP (n = 12) and paired healthy controls (n = 12) to imagine in first person perspective eight daily actions, after observing them through videoclips presented on a computer screen. During motor imagery (MI) children were interrupted at a specific timepoint (e.g., at 2.5 s) from the start. Two frames extracted from the videoclips were then presented on the screen. One of the two depicted the correct timepoint at which the imagined action was interrupted, while the other represented an earlier or later timepoint. Children had to respond by pressing the key associated to the correct frame. Children also underwent VMIQ-2 questionnaire. Both groups performed similarly in the questionnaire and in the requested task, where they showed the same error rate. Errors mainly concerned the later frame, suggesting a similar strategy to solve the task in the two groups. The results support the view that children with CP can imagine actions similarly to their normally developed peers. This encourages the use of MI as a rehabilitative tool in children with motor impairment.