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1.
Sleep Health ; 3(3): 136-141, 2017 06.
Article in English | MEDLINE | ID: mdl-28526249

ABSTRACT

OBJECTIVES: Behavioral sleep problems (BSPs) are prevalent and consequential in young children. There is a need for screening tools that identify BSPs-which are often rooted in the parent-young child relationship-and typically respond to behavior management. Such a tool would increase capacity to identify and treat BSPs. We sought to validate a short-form version of the widely used Children's Sleep Habits Questionnaire (SF-CSHQ) that omitted items that would not be responsive to behavioral strategies. METHODS: The original 33-item CSHQ elicits parent report of "behaviorally-based" and "medically-based" sleep items (eg, parasomnias and sleep disordered breathing). We conducted analyses to develop a SF-CSHQ that excludes its "medically-based" items, to determine (a) the SF-CSHQ threshold score corresponding to the full CSHQ clinical cut-off score (≥41), and (b) preliminary validity of this SF-CSHQ. Data were re-analyzed from the original data that established the CSHQ's psychometric properties in 4-10 year olds, and a second dataset that established its validity in 24-66 month olds. RESULTS: In both datasets, a threshold score of 30 had correlations of 0.90-0.94 with the original cut-off. This 23-item SF-CSHQ cut-off functioned as well as the full CSHQ cut-off in discriminating between children with vs without a parent-reported behavioral sleep problem, and with vs without prolonged sleep latency (per actigraphy). CONCLUSION: We established preliminary validity of modified version of the widely-used CSHQ. This SF-CSHQ may be useful for widening screening and first-line guidance for behavioral sleep problems in young children, among professionals who are not sleep medicine specialists.


Subject(s)
Habits , Problem Behavior , Sleep/physiology , Surveys and Questionnaires/standards , Actigraphy , Child , Child, Preschool , Female , Humans , Male , Psychometrics , Reproducibility of Results , Sleep Wake Disorders/psychology
2.
Behav Sleep Med ; 9(2): 92-106, 2011.
Article in English | MEDLINE | ID: mdl-21491232

ABSTRACT

This study examined sleep-wake patterns in 3 matched comparison groups of preschool-aged children: children with autism (AUT), children with developmental delay (DD) without AUT, and children who are developing typically (TYP). Sleep was assessed via actigraphy and parent-report diaries for 7 consecutive 24-hr periods across 3 time points: at enrollment (n = 194), 3 months later (n = 179), and 6 months after enrollment (n = 173). At each recording period, children in the AUT group slept less per 24-hr period, on average, and were less likely to awaken at night than children in the other two groups. In contrast, children in the DD group had more frequent and longer duration nighttime awakenings than children in the AUT group. Overall, children in the 2 neurodevelopmentally disordered groups demonstrated more night-to-night variability in their sleep-wake measures than children in the TYP group.


Subject(s)
Autistic Disorder/psychology , Child Development , Developmental Disabilities/psychology , Sleep , Wakefulness , Actigraphy/methods , Child, Preschool , Female , Humans , Male
3.
J Dev Behav Pediatr ; 31(3 Suppl): S7-10, 2010 Apr.
Article in English | MEDLINE | ID: mdl-20414081

ABSTRACT

CASE: Sophia is a 3-year-old girl who was brought to her pediatrician by her parents who were concerned about inconsolable night-time awakening. Her mother indicated that she has frequent (>6), early nocturnal awakenings accompanied by screaming and crying lasting up to 1 hour since her birth. These episodes increased in intensity and frequency in the past year since the birth of her brother. With a bedtime routine (a cup of water by bedside with a washcloth and touching mother's nose, chin, and cheeks), Sophia falls asleep easily; however, within 1 hour she awakes screaming and flailing unaware of her surroundings and unable to be comforted. There are no tonic-clonic movements. Prior interventions, including a sleep coach and "letting Sophia cry it out," did not change her sleep pattern. Sophia's mother reports that she needs to be on a specific daily routine including set times for awakening, activity, snacks, naps, and meals. Diversion from the routine and separation from her mother results in a tantrum (kicking, hitting, screaming, and inconsolability) often lasting more than 30 minutes. Sophia was born after an uncomplicated 37-week gestation. Neonatal hyperbilirubinemia required readmission for 24 hours of phototherapy; serum bilirubin levels were performed daily for 3 weeks after discharge. At 6 weeks, daily episodes of screaming, inconsolability, forceful vomiting, and inability to sleep led to a diagnosis of gastroesophageal reflux. Medication trials were not successful, but the symptoms resolved by 5 months. Formula intolerance and difficulty swallowing and chewing different textures of solid food occurred in the first year. Occupational therapy was of "no benefit"; Sophia was overwhelmed by the activity and took a long time to warm up to the therapist. Her texture aversion resolved by 2 years of age. She prefers one-on-one play and has minimal interactions with other children. She has met all her developmental milestones appropriately and has no other health issues. Sophia lives with her parents and infant brother. There is a maternal family history of insomnia and sleep walking and a paternal history of sleeping walking. Her mother adheres to a strict daily schedule. Sleep deprivation, differences parent child-rearing practices, social isolation, and lack of quality parent time were all identified by the mother as significant marital stressors. During the office visit, Sophia required 30 minutes to warm up and smile, and over 60 minutes before she spoke her first word. Physical examination was normal (including growth measurements) and the developmental examination was age-appropriate. Upon completion of the assessment, she was engaging, playful, and cooperative with the pediatrician.

4.
J Clin Sleep Med ; 5(2): 145-50, 2009 Apr 15.
Article in English | MEDLINE | ID: mdl-19968048

ABSTRACT

STUDY OBJECTIVE: To determine the efficacy of melatonin on sleep problems in children with autistic spectrum disorder (ASD) and fragile X syndrome (FXS). METHODS: A 4-week, randomized, double blind, placebo-controlled, crossover design was conducted following a 1-week baseline period. Either melatonin, 3 mg, or placebo was given to participants for 2 weeks and then alternated for another 2 weeks. Sleep variables, including sleep duration, sleep-onset time, sleep-onset latency time, and the number of night awakenings, were recorded using an Actiwatch and from sleep diaries completed by parents. All participants had been thoroughly assessed for ASD and also had DNA testing for the diagnosis of FXS. RESULTS: Data were successfully obtained from the 12 of 18 subjects who completed the study (11 males, age range 2 to 15.25 years, mean 5.47, SD 3.6). Five participants met diagnostic criteria for ASD, 3 for FXS alone, 3 for FXS and ASD, and 1 for fragile X premutation. Eight out of 12 had melatonin first. The conclusions from a nonparametric repeated-measures technique indicate that mean night sleep duration was longer on melatonin than placebo by 21 minutes (p = .02), mean sleep-onset latency was shorter by 28 minutes (p = .0001), and mean sleep-onset time was earlier by 42 minutes (p = .02). CONCLUSION: The results of this study support the efficacy and tolerability of melatonin treatment for sleep problems in children with ASD and FXS.


Subject(s)
Autistic Disorder/complications , Central Nervous System Depressants/therapeutic use , Fragile X Syndrome/complications , Melatonin/therapeutic use , Sleep Wake Disorders/drug therapy , Adolescent , Child , Child, Preschool , Cross-Over Studies , Double-Blind Method , Female , Humans , Male , Sleep Wake Disorders/complications
5.
Autism Res ; 2(5): 246-57, 2009 Oct.
Article in English | MEDLINE | ID: mdl-19885834

ABSTRACT

Magnetic resonance imaging (MRI) and postmortem neuropathological studies have implicated the cerebellum in the pathophysiology of autism. Controversy remains, however, concerning the nature and the consistency of cerebellar alterations. MRI studies of the cross-sectional area of the vermis have found both decreases and no difference in autism groups. Volumetric analysis of the vermis, which is less prone to "plane of section artifacts" may provide a more reliable assessment of size differences but few such studies exist in the literature. Here we present the results of a volumetric analysis of the structure of the whole cerebellum and its components in children and adolescents with autism spectrum disorders. Structural MRI's were acquired from 62 male participants (7.5 to 18.5 years-old) who met criteria for the following age-matched diagnostic groups: low functioning autism, high functioning autism (HFA), Asperger syndrome, and typically developing children. When compared to controls, the midsagittal area of the vermis, or of subgroups of lobules, was not reduced in any of the autism groups. However, we did find that total vermis volume was decreased in the combined autism group. When examined separately, the vermis of only the HFA group was significantly reduced compared to typically developing controls. Neither IQ nor age predicted the size of the vermis within the autism groups. There were no differences in the volume of individual vermal lobules or cerebellar hemispheres. These findings are discussed in relation to the pathology of autism and to the fairly common alterations of vermal morphology in various neurodevelopmental disorders.


Subject(s)
Brain Mapping/methods , Cerebellum/pathology , Child Development Disorders, Pervasive/pathology , Magnetic Resonance Imaging/methods , Adolescent , Analysis of Variance , Brain Mapping/statistics & numerical data , Child , Humans , Image Processing, Computer-Assisted/methods , Imaging, Three-Dimensional/methods , Male
6.
Child Psychiatry Hum Dev ; 40(2): 257-68, 2009 Jun.
Article in English | MEDLINE | ID: mdl-19142725

ABSTRACT

OBJECTIVE: This study investigated the association between preschool children's sleep patterns measured by actigraphy and parent-reported hyperactivity symptoms. Many previous studies have reported sleep problems in children with attention deficit hyperactivity disorder (ADHD)-like symptoms. METHODS: This study examined a cross-sectional sample of 186 preschoolers age 2-5 years in three groups: children with autism, children with developmental delay without autism, and typically developing children recruited from the general population. One week of actigraphic sleep data plus a parent report of the presence or absence of a current sleep problem were collected. Parents completed the child behavior checklist; a subset of children in preschool had teachers who completed the caregiver-teacher report form. Sleep behavior was compared for those children with and without clinical levels of attention-deficit/hyperactivity symptoms (T scores > or = 65). RESULTS: The prevalence of a parent-defined sleep problem across the entire sample was 36.1%. Thirty-four percent of the sample had a parent-reported ADHD composite in the clinical range. Those children with a clinical ADHD profile were more likely to be described by parents as having a sleep problem. However, no significant differences in actigraphic sleep patterns or night-to-night sleep-wake variability were found for children with an ADHD profile in the clinical range. CONCLUSIONS: In this non-clinical sample of preschool age children, parental reports of clinical ADHD profiles were significantly associated with parental reports of sleep problems but not with actigraphically recorded sleep-wake data.


Subject(s)
Attention Deficit Disorder with Hyperactivity/epidemiology , Polysomnography , Psychological Tests , Sleep Wake Disorders/diagnosis , Sleep Wake Disorders/epidemiology , Autistic Disorder/epidemiology , Child, Preschool , Comorbidity , Cross-Sectional Studies , Developmental Disabilities/epidemiology , Female , Humans , Male , Parents , Prevalence , United States/epidemiology
7.
J Dev Behav Pediatr ; 29(4): 311-4, 2008 Aug.
Article in English | MEDLINE | ID: mdl-18698194

ABSTRACT

Sophia is a 3-year-old girl who was brought to her pediatrician by her parents who were concerned about inconsolable night-time awakening. Her mother indicated that she has frequent (>6), early nocturnal awakenings accompanied by screaming and crying lasting up to 1 hour since her birth. These episodes increased in intensity and frequency in the past year since the birth of her brother. With a bedtime routine (a cup of water by bedside with a washcloth and touching mother's nose, chin, and cheeks), Sophia falls asleep easily; however, within 1 hour she awakes screaming and flailing unaware of her surroundings and unable to be comforted. There are no tonic-clonic movements. Prior interventions, including a sleep coach and "letting Sophia cry it out," did not change her sleep pattern. Sophia's mother reports that she needs to be on a specific daily routine including set times for awakening, activity, snacks, naps, and meals. Diversion from the routine and separation from her mother results in a tantrum (kicking, hitting, screaming, and inconsolability) often lasting more than 30 minutes. Sophia was born after an uncomplicated 37-week gestation. Neonatal hyperbilirubinemia required readmission for 24 hours of phototherapy; serum bilirubin levels were performed daily for 3 weeks after discharge. At 6 weeks, daily episodes of screaming, inconsolability, forceful vomiting, and inability to sleep led to a diagnosis of gastroesophageal reflux. Medication trials were not successful, but the symptoms resolved by 5 months. Formula intolerance and difficulty swallowing and chewing different textures of solid food occurred in the first year. Occupational therapy was of "no benefit"; Sophia was overwhelmed by the activity and took a long time to warm up to the therapist. Her texture aversion resolved by 2 years of age. She prefers one-on-one play and has minimal interactions with other children. She has met all her developmental milestones appropriately and has no other health issues. Sophia lives with her parents and infant brother. There is a maternal family history of insomnia and sleep walking and a paternal history of sleep walking. Her mother adheres to a strict daily schedule. Sleep deprivation, different parental child-rearing practices, social isolation, and lack of quality parent time were all identified by the mother as significant marital stressors. During the office visit, Sophia required 30 minutes to warm up and smile, and over 60 minutes before she spoke her first word. Physical examination was normal (including growth measurements) and the developmental examination was age-appropriate. Upon completion of the assessment, she was engaging, playful, and cooperative with the pediatrician.


Subject(s)
Night Terrors/diagnosis , Sleep Wake Disorders/diagnosis , Wakefulness/physiology , Child, Preschool , Family/psychology , Female , Humans , Mother-Child Relations , Night Terrors/physiopathology , Night Terrors/psychology , Personality Assessment , Psychomotor Performance/physiology , Sleep Wake Disorders/physiopathology , Social Behavior
8.
J Am Acad Child Adolesc Psychiatry ; 47(8): 930-8, 2008 Aug.
Article in English | MEDLINE | ID: mdl-18596550

ABSTRACT

OBJECTIVE: A prominent noncore symptom of autistic disorder is disturbed sleep, but relatively few studies have investigated this symptom. METHOD: A multimethod approach assessed the quantity and quality of sleep in 194 children (68 with autism [AUT], 57 with developmental delay without autism [DD], 69 with typical development) recorded over 1 week. Parent perceptions, structured questionnaires, and actigraphy were compared. In addition, problem sleep as defined by parents was compared with research diagnostic criteria for behavioral insomnia obtained from actigraph recordings. RESULTS: On actigraphy, children in the DD group, after sleep onset, exhibited more and longer awakenings than the other two groups. In contrast, children in the AUT group exhibited less total sleep time in 24 hours than the other two groups. Parent reports of sleep problems were higher in the AUT and DD groups than the typical development group, but parent reports did not concur with more objective RDC for behavioral insomnia. Parent reports of sleep problems in all of the groups were significantly associated with increased self-reports of stress. Total 24-hour sleep durations for all of the groups were shorter than recommended for preschool-age children. CONCLUSIONS: Our study provides objective evidence that sleep patterns are different in preschool children across the categories of AUT, DD, or typical development.


Subject(s)
Autistic Disorder/epidemiology , Child Development , Developmental Disabilities/epidemiology , Sleep Initiation and Maintenance Disorders/epidemiology , Autistic Disorder/diagnosis , Child , Child, Preschool , Developmental Disabilities/diagnosis , Electromyography , Female , Humans , Male , Prevalence , Severity of Illness Index , Sleep Initiation and Maintenance Disorders/diagnosis
9.
J Dev Behav Pediatr ; 29(2): 82-88, 2008 Apr.
Article in English | MEDLINE | ID: mdl-18478627

ABSTRACT

OBJECTIVE: Twenty to 40% of young children are reported to have behavioral insomnias of childhood. Concerns about sleep at these ages are the most common problem expressed to pediatricians at the time of well child visits. A screening questionnaire, the Children's Sleep Habits Questionnaire (CSHQ), has been used in clinical settings and in research studies to assess children ages 4 to 10 for the presence of sleep problems. A CSHQ total score has distinguished clinical populations from community samples. METHODS: The current study assesses the CSHQ in a younger age group than previously reported and in a diverse population. A total of 194 children, ages 2 to 51/2 years, were recruited into 3 diagnostic groups: 68 children with autism, 57 children with developmental delay without autism, and 69 typically developing children. All children's parents completed the CSHQ and a sleep log, and all children were studied for 7 days and nights with actigraphy. The children were divided into problem sleep and non-problem sleep groups on the basis of a parent report of a generic sleep problem at the time of entry into the study. The CSHQ responses for the problem and non-problem sleep groups were then compared. RESULTS: The results suggest that the CSHQ is clinically useful for screening of sleep problems in typically developing children at these young ages as well as in children with diverse neurodevelopmental diagnoses. CONCLUSIONS: The somewhat higher subscale scores than previously reported for older children appear to be consistent with more sleep problems in younger children.


Subject(s)
Autistic Disorder/complications , Developmental Disabilities/complications , Mass Screening , Sleep Initiation and Maintenance Disorders/prevention & control , Surveys and Questionnaires , Activity Cycles , Age Factors , Child, Preschool , Humans , Medical Records , Monitoring, Ambulatory , Multivariate Analysis , Reproducibility of Results , Sleep Initiation and Maintenance Disorders/complications
10.
Sleep ; 31(3): 395-401, 2008 Mar.
Article in English | MEDLINE | ID: mdl-18363316

ABSTRACT

STUDY OBJECTIVES: This study compared actigraphy with videosomnography in preschool-aged children, with special emphasis on the accuracy of detection of nighttime awakenings. DESIGN: Fifty-eight participants wore an actigraph for 1 week and were videotaped for 2 nights while wearing the actigraph. SETTING: Participants were solitary sleepers, studied in their homes. PARTICIPANTS: One group (n = 22) was diagnosed with autism, another group (n = 11) had developmental delays without autism, and a third group (n = 25) were typically developing children; age ranged from 28 to 73 months (mean age 47 months); 29 boys and 29 girls. INTERVENTIONS: N/A. MEASUREMENTS AND RESULTS: Nocturnal sleep and wakefulness were scored from simultaneously recorded videosomnography and actigraphy. The accuracy of actigraphy was examined in an epoch-by-epoch comparison with videosomnography. Findings were 94% overall agreement, 97% sensitivity, and 24% specificity. Statistical corrections for overall agreement and specificity resulted in an 89% weighted-agreement and 27% adjusted specificity. CONCLUSIONS: Actigraphy has poor agreement for detecting nocturnal awakenings, compared with video observations, in preschool-aged children.


Subject(s)
Autistic Disorder/diagnosis , Developmental Disabilities/diagnosis , Monitoring, Ambulatory/statistics & numerical data , Motor Activity , Polysomnography/statistics & numerical data , Sleep Initiation and Maintenance Disorders/diagnosis , Video Recording/statistics & numerical data , Wakefulness , Child , Child, Preschool , Female , Humans , Male , Reference Values , Reproducibility of Results
11.
Hippocampus ; 17(6): 486-93, 2007.
Article in English | MEDLINE | ID: mdl-17407128

ABSTRACT

Historically, there have been numerous proposals that the size of the brain correlates with its capacity to process information. Little is known, however, about which specific brain regions contribute to this correlation in children and adolescents. This study evaluated the relationship between intelligence and the size of various brain structures in typically developing male children 8-18 yrs of age. Magnetic resonance imaging (MRI) scans were used to measure the volume of the cerebrum, cerebral gray and white matter, cerebellum, amygdala, and hippocampus. Gray matter and hippocampal volume significantly correlated with full scale and verbal IQ. Since the hippocampus strongly correlated with verbal but not performance IQ, our findings reinforce the hypothesis that the hippocampus is involved in declarative and semantic learning, which contributes more notably to verbal IQ, than to performance IQ. Given the substantial evidence for environmentally induced changes in hippocampal structure, an unresolved issue is whether this relationship reflects genetically determined individual variation or learning induced plasticity.


Subject(s)
Hippocampus/anatomy & histology , Hippocampus/physiology , Intelligence/physiology , Verbal Behavior/physiology , Adolescent , Child , Humans , Intelligence Tests , Magnetic Resonance Imaging , Male , Neuropsychological Tests , Statistics as Topic
12.
J Clin Psychiatry ; 67(1): 87-94, 2006 Jan.
Article in English | MEDLINE | ID: mdl-16426093

ABSTRACT

OBJECTIVE: The authors describe and quantify the neuropsychiatric symptoms present in a cohort of males with the fragile X mental retardation 1 (FMR1) premutation allele who have developed fragile X-associated tremor/ataxia syndrome (FXTAS). METHOD: Fourteen male carriers of the FMR1 premutation who had clinical manifestations of the FXTAS syndrome and 14 age- and education-matched controls were assessed with the Neuropsychiatric Inventory (NPI), formal cognitive testing, and genetic analysis. RESULTS: Males with FXTAS had significantly higher total NPI scores (p < .004) and significantly higher scores on the agitation/aggression (p < .004), depression (p < .004), apathy (p < .004), disinhibition (p < .004), and irritability (p < .004) scales, compared with controls. Cognitive performances on the Mini-Mental State Examination did not correlate with severity of symptoms on the NPI. CONCLUSIONS: The neuropsychiatric manifestations of FXTAS, based on this preliminary report, appear to cluster as a fronto-subcortical dementia. Clinicians encountering patients with clinical dementia with motor symptoms suggesting FXTAS should consider genetic testing to determine whether the patient's dementia syndrome is secondary to a fragile X premutation carrier status.


Subject(s)
Ataxia/genetics , Dementia/genetics , Fragile X Mental Retardation Protein/genetics , Fragile X Syndrome/diagnosis , Fragile X Syndrome/genetics , Phenotype , Tremor/genetics , Aged , Ataxia/diagnosis , Dementia/classification , Dementia/diagnosis , Genetic Carrier Screening , Genetic Predisposition to Disease/genetics , Genetic Testing , Heterozygote , Humans , Male , Middle Aged , Personality Inventory , Psychiatric Status Rating Scales , Severity of Illness Index , Sex Factors , Syndrome , Tremor/diagnosis , Wechsler Scales
13.
J Clin Child Adolesc Psychol ; 34(3): 523-40, 2005 Sep.
Article in English | MEDLINE | ID: mdl-16083393

ABSTRACT

This article reviews evidence-based criteria that can guide practitioners in the selection, use, and interpretation of assessment tools for autism spectrum disorders (ASD). As Mash and Hunsley (2005) discuss in this special section, evidence-based assessment tools not only demonstrate adequate psychometric qualities, but also have relevance to the delivery of services to individuals with the disorder (see also Hayes, Nelson, & Jarrett, 1987). Thus, we use what is known about the symptoms, etiologies, developmental course, and outcome of ASD to evaluate the utility of particular assessment strategies and instruments for diagnosis, treatment planning and monitoring, and evaluation of outcome. The article begins with a review of relevant research on ASD. Next we provide an overview of the assessment process and some important issues that must be considered. We then describe the components of a core (minimum) assessment battery, followed by additional domains that might be considered in a more comprehensive assessment. Domains covered include core autism symptomatology, intelligence, language, adaptive behavior, neuropsychological functions, comorbid psychiatric illnesses, and contextual factors (e.g., parent well-being, family functioning, quality of life). We end with a discussion of how well the extant literature meets criteria for evidence-based assessments.


Subject(s)
Autistic Disorder/diagnosis , Evidence-Based Medicine/methods , Achievement , Adolescent , Autistic Disorder/epidemiology , Autistic Disorder/therapy , Child , Cognition Disorders/diagnosis , Cognition Disorders/epidemiology , Comorbidity , Family/psychology , Humans , Interview, Psychological , Language Disorders/diagnosis , Language Disorders/epidemiology , Neuropsychological Tests , Observer Variation , Surveys and Questionnaires
14.
Behav Sleep Med ; 3(1): 44-61, 2005.
Article in English | MEDLINE | ID: mdl-15639757

ABSTRACT

Sixty-eight families participated in a longitudinal study that included video observations of sleep during the 1st year of life and annual follow-up phone interviews until the children were 4 years of age. Results revealed that approximately 19% of children have a sleep problem at 2 years of age, defined either by research criteria or parental report, and that sleep problems diminished over time. Approximately 25% of children were reported to be cosleeping at each follow-up interview, but only a third of the parents reported this behavior to be problematic. A subgroup of infants (33%), who were considered stable, non-self-soothers in the 1st year, were more likely to have a sleep onset problem and be cosleeping at the 2-year follow-up assessment.


Subject(s)
Sleep Wake Disorders/epidemiology , Age Factors , California , Child, Preschool , Cross-Sectional Studies , Female , Follow-Up Studies , Health Surveys , Humans , Infant , Male , Parent-Child Relations , Sleep Initiation and Maintenance Disorders/classification , Sleep Initiation and Maintenance Disorders/epidemiology , Sleep Wake Disorders/classification , Social Environment
15.
J Dev Behav Pediatr ; 25(6): 392-8, 2004 Dec.
Article in English | MEDLINE | ID: mdl-15613987

ABSTRACT

Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. It is also one of the most common identifiable causes of Autism Spectrum Disorder (ASD). Carriers of FXS are often considered to be cognitively and behaviorally unaffected. However, we report here on six individuals in the premutation range who also have ASD. A comparison is made with five subjects in the premutation range who did not receive a diagnosis of ASD. The six individuals with ASD had a range of cognitive ability levels from no impairment to moderate retardation. Discussion includes the impact of molecular variables including lowered FMR1 protein and elevated FMR1 mRNA in addition to environmental factors leading to the complex neurodevelopmental disorder of ASD.


Subject(s)
Autistic Disorder/etiology , Fragile X Syndrome/complications , Fragile X Syndrome/genetics , Nerve Tissue Proteins/genetics , RNA-Binding Proteins/genetics , Adult , Autistic Disorder/diagnosis , Child , Child, Preschool , DNA Mutational Analysis , DNA, Complementary/genetics , Female , Fragile X Mental Retardation Protein , Fragile X Syndrome/blood , Humans , Intellectual Disability/diagnosis , Intellectual Disability/etiology , Male , Mass Screening , Nerve Tissue Proteins/blood , Point Mutation/genetics , RNA-Binding Proteins/blood , Reverse Transcriptase Polymerase Chain Reaction , Surveys and Questionnaires
16.
Child Psychiatry Hum Dev ; 35(2): 95-105, 2004.
Article in English | MEDLINE | ID: mdl-15577276

ABSTRACT

This study examined whether 3-15, month-old cosleeping infants displayed differences in time spent in active versus quiet sleep, and in the number/duration of nighttime awakenings when compared with solitary-sleeping infants; and also whether they spent the majority of the night sleeping face-to-face, as previously reported. Nine cosleeping and nine solitary-sleeping infants were matched on age, gender, ethnicity, maternal age, and family SES. Video recordings of nighttime sleep yielded percentage of time in active sleep, quiet sleep, and awake, number of wakenings, and the percentage of time cosleeping infants and mothers spent face-to-face. Across age, cosleeping infants had more awakenings per night mean 5.8(1.50) versus 3.2(1.95); t = 3.16, p = .006). The percent of the nighttime spent awake did not differ between groups, suggesting that cosleeping infants had shorter awakenings. Cosleeping infants spent 40% of the night face-to-face with their mothers.


Subject(s)
Mother-Child Relations , Sleep Disorders, Circadian Rhythm/epidemiology , Sleep , Adult , Family/psychology , Female , Humans , Infant , Male , Sleep Disorders, Circadian Rhythm/diagnosis , Socioeconomic Factors , Videotape Recording , Wakefulness
17.
J Neurosci ; 24(28): 6392-401, 2004 Jul 14.
Article in English | MEDLINE | ID: mdl-15254095

ABSTRACT

Autism is a neurodevelopmental disorder characterized by impairments in reciprocal social interaction, deficits in verbal and nonverbal communication, and a restricted repertoire of activities or interests. We performed a magnetic resonance imaging study to better define the neuropathology of autistic spectrum disorders. Here we report findings on the amygdala and the hippocampal formation. Borders of the amygdala, hippocampus, and cerebrum were defined, and their volumes were measured in male children (7.5-18.5 years of age) in four diagnostic groups: autism with mental retardation, autism without mental retardation, Asperger syndrome, and age-matched typically developing controls. Although there were no differences between groups in terms of total cerebral volume, children with autism (7.5-12.5 years of age) had larger right and left amygdala volumes than control children. There were no differences in amygdala volume between the adolescent groups (12.75-18.5 years of age). Interestingly, the amygdala in typically developing children increases substantially in volume from 7.5 to 18.5 years of age. Thus, the amygdala in children with autism is initially larger, but does not undergo the age-related increase observed in typically developing children. Children with autism, with and without mental retardation, also had a larger right hippocampal volume than typically developing controls, even after controlling for total cerebral volume. Children with autism but without mental retardation also had a larger left hippocampal volume relative to controls. These cross-sectional findings indicate an abnormal program of early amygdala development in autism and an abnormal pattern of hippocampal development that persists through adolescence. The cause of amygdala and hippocampal abnormalities in autism is currently unknown.


Subject(s)
Amygdala/pathology , Autistic Disorder/pathology , Hippocampus/pathology , Adolescent , Age Factors , Autistic Disorder/complications , Brain/pathology , Child , Humans , Hypertrophy , Intellectual Disability/complications , Intellectual Disability/pathology , Magnetic Resonance Imaging , Male , Organ Size
18.
Arch Gen Psychiatry ; 61(3): 291-8, 2004 Mar.
Article in English | MEDLINE | ID: mdl-14993117

ABSTRACT

BACKGROUND: Autism and Asperger syndrome (ASP) are neurobiological conditions with overlapping behavioral symptoms and of unknown etiologies. Results from previous autism neuroimaging studies have been difficult to replicate, possibly owing to site differences in subject samples, scanning procedures, and image-processing methods. We sought (1) to determine whether low-functioning autism (LFA; IQ<70), high-functioning autism (HFA; IQ>or=70), and ASP constitute distinct biological entities as evidenced by neuroanatomical measures, and (2) to assess for intersite differences. METHODS: Case-control study examining coronally oriented 124-section spoiled gradient echo images acquired on 3 magnetic resonance imaging (MRI) systems, and processed by BrainImage 5.X. Participants were recruited and underwent scanning at 2 academic medicine departments. Participants included 4 age-matched groups of volunteer boys aged 7.8 to 17.9 years (13 patients with LFA, 18 with HFA, 21 with ASP, and 21 control subjects), and 3 volunteer adults for neuroimaging reliability. Main outcome measures included volumetric measures of total, white, and gray matter for cerebral and cerebellar tissues. RESULTS: Intersite differences were seen for subject age, IQ, and cerebellum measures. Cerebral gray matter volume was enlarged in both HFA and LFA compared with controls (P =.009 and P =.04, respectively). Cerebral gray matter volume in ASP was intermediate between that of HFA and controls, but nonsignificant. Exploratory analyses revealed a negative correlation between cerebral gray matter volume and performance IQ within HFA but not ASP. A positive correlation between cerebral white matter volume and performance IQ was observed within ASP but not HFA. CONCLUSIONS: Lack of replication between previous autism MRI studies could be due to intersite differences in MRI systems and subjects' age and IQ. Cerebral gray tissue findings suggest that ASP is on the mild end of the autism spectrum. However, exploratory assessments of brain-IQ relationships reveal differences between HFA and ASP, indicating that these conditions may be neurodevelopmentally different when patterns of multiple measures are examined. Further investigations of brain-behavior relationships are indicated to confirm these findings.


Subject(s)
Asperger Syndrome/pathology , Autistic Disorder/pathology , Brain/pathology , Cerebellum/pathology , Adolescent , Case-Control Studies , Child , Humans , Intelligence , Magnetic Resonance Imaging , Male , Severity of Illness Index
19.
J Autism Dev Disord ; 34(6): 649-68, 2004 Dec.
Article in English | MEDLINE | ID: mdl-15679185

ABSTRACT

This paper reports the findings of a 20-week social adjustment enhancement curriculum for boys aged 8-12. The curriculum was designed to address three areas hypothesized to be deficient in persons with HFA, AS, and PDDNOS: emotion recognition and understanding; theory of mind; and executive functions/real life type problem solving. Parents attended a semi-structured concurrent psychoeducational training meeting during children's sessions. Statistically significant improvements in facial expression recognition, and problem solving were reported for intervention group children compared to waiting list control group children. For the intervention group (the only group for whom data were available), older and less cognitively able boy's scores on a depression inventory decreased significantly more than younger children's. Mother's depression scores tended to decrease and there were significant reductions in child problem behaviors reported. Results are discussed in the context of individual differences in participant cognitive levels and profiles, symptom severity, and affect-related variables.


Subject(s)
Adjustment Disorders/epidemiology , Adjustment Disorders/therapy , Asperger Syndrome/epidemiology , Asperger Syndrome/psychology , Autistic Disorder/psychology , Child Development Disorders, Pervasive/epidemiology , Child Development Disorders, Pervasive/psychology , Cognition Disorders/diagnosis , Psychotherapy, Group/methods , Social Adjustment , Adjustment Disorders/diagnosis , Adult , Autistic Disorder/epidemiology , Child , Cognition Disorders/epidemiology , Culture , Depression/epidemiology , Depression/psychology , Facial Expression , Female , Humans , Male , Mothers/psychology , Mothers/statistics & numerical data , Neuropsychological Tests , Problem Solving , Recognition, Psychology , Severity of Illness Index , Surveys and Questionnaires
20.
Child Psychiatry Hum Dev ; 33(2): 107-23, 2002.
Article in English | MEDLINE | ID: mdl-12462350

ABSTRACT

The objectives of this pilot study were 1) to examine possible effects of secretin infusions on sleep-wake state organization in children with autism, and 2) to assess the feasibility of home recordings using time-lapse videosomnography in children with autism. Participants were a subset of subjects from two double blind, placebo-control, multi-center clinical trials. One trial, the UC Irvine study, assessed the effects of porcine secretin vs. saline infusions on children's behavior, language and IQ. The UC Davis trial assessed the effects of synthetic human secretin vs. saline infusions on behavior, language and gastrointestinal function. The sleep study enrolled some of the children from each of the two trials to observe possible secretin effects on sleep. To examine sleep, the UC Irvine trial used the Children's Sleep Habits Questionnaire and daily sleep diaries, whereas the UC Davis study used home-recorded time-lapse videosomnography. Because of the small sample size, the results from both trials are preliminary. They suggest that secretin, porcine or synthetic, does not improve sleep-wake state organization dramatically.


Subject(s)
Autistic Disorder/complications , Gastrointestinal Agents/therapeutic use , Secretin/therapeutic use , Sleep Wake Disorders/drug therapy , Child , Child, Preschool , Cross-Over Studies , Double-Blind Method , Humans , Infusions, Intravenous , Multivariate Analysis , Pilot Projects , Polysomnography/methods , Sleep Wake Disorders/etiology
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