The 'happy puppet' syndrome of Angelman: review of the clinical features.

Robb, Stephanie; Pohl, Keith; Baraitser, M; Wilson, John; Brett, E. M.

doi:10.1136/adc.64.1.83

Cited by 66 publications

(47 citation statements)

References 15 publications

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“…lhere are also many other remarkable phenotypic similarities bewecn these two conditions, such as microcephaly, seizure disorders, hand flapping, inappmdriate laughing, lack of verbal communication, and increasing rigidity (Robb et al 1989). However, the etiology of Angelman syndrome is known to be a genetic disorder caused by the maternally-inherited deletion on chromosome 15 (qll-ql3) (Pembrey et al 1989), while the etiology in Rett syndrome remains elusive.…”

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confidence: 99%

Sleep dysfunction in Rett syndrome: a trial of exogenous melatonin treatment

McArthur¹,

Budden

1998

Develop Med Child Neuro

192

123

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Nine girls with Rett syndrome (mean age, 10.1 years) were monitored 24 hours a day over a period of 10 weeks using wrist actigraphy. Baseline sleepwake patterns were assessed for 1 week. Subsequently, patients underwent a 4-week melatonin treatment period in a double-blind, placebocontrolled, crdssover protocol that employed a 1-week washout between treatment trials. Melatonin doses ranged from 2.5 to 7.5 mg, based upon individual body weight.

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confidence: 99%

Sleep dysfunction in Rett syndrome: a trial of exogenous melatonin treatment

McArthur¹,

Budden

1998

Develop Med Child Neuro

192

123

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“…3,4 The variability of AS phenotype has been described in few reports, but most of these ante-date the recognition of UPD, imprinting mutations, and abnormalities of UBE3A gene. [5][6][7][8] Phenotypic comparison between deletion and non-deletion AS patients has been reported in only two studies. 9,10 There were no significant differences except for hypopigmentation, found only in deletion cases.…”

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confidence: 99%

Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients

et al. 1999

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Angelman syndrome (AS) is a neurodevelopmental disorder caused by the absence of a maternal contribution to chromosome 15q11-q13. There are four classes of AS according to molecular or cytogenetic status: maternal microdeletion of 15q11-q13 (approximately 70% of AS patients); uniparental disomy (UPD); defects in a putative imprinting centre (IM); the fourth includes 20-30% of AS individuals with biparental inheritance and a normal pattern of allelic methylation in 15q11-q13. Mutations of UBE3A have recently been identified as causing AS in the latter group. Few studies have investigated the phenotypic differences between these classes. We compared 20 non-deletion to 20 age-matched deletion patients and found significant phenotypic differences between the two groups. The more severe phenotype in the deletion group may suggest a contiguous gene syndrome.

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“…The features of AS usually become apparent at a few months of age because of delay in motor milestones, ataxic jerky movements, and onset of seizures. There have been several good clinical reviews of AS (Williams and Frias 1982, Robb et al 1989, Zori et al 1992, Clayton-Smith 1993 but these have concentrated mainly on the clinical features in younger patients. Bjerre reported a 76-year-old patient from Sweden in 1984 and more recently others have published further clinical details of adults with AS (Williams et al 1989, Buntinx et al 1995, Reish et al 1995, Laan et al 1996, Sandanam et al 1997.…”

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Angelman syndrome: evolution of the phenotype in adolescents and adults

Clayton‐Smith¹

2001

Develop Med Child Neuro

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Individuals with Angelman syndrome (AS) have severe learning disability, * at axia, seizures, dysmorphic facies, a happy, sociable disposition, and inability to speak. Most of the literature concerning the clinical features of AS has concentrated on younger children. This study aimed to look at the natural history of AS by documenting the clinical features in a group of 28 adolescents and adults with AS (12 males, 16 females; age range 16 to 40 years). Specific aspects studied included physical characteristics, general health, mobility, seizure disorder, behaviour and communication, and self‐help skills. Problems seen in this older group of individuals differed significantly from those typically observed in younger children. The incidence of scoliosis and joint contractures increased with age. Facial features were more striking in adults. Hyperactivity and concentration improved and the sociable disposition persisted. There were subtle clinical differences between the groups of individuals with different underlying genetic abnormalities. Information obtained from this study is relevant to diagnosis and management of older individuals with AS.

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The 'happy puppet' syndrome of Angelman: review of the clinical features.

Cited by 66 publications

References 15 publications

Sleep dysfunction in Rett syndrome: a trial of exogenous melatonin treatment

Sleep dysfunction in Rett syndrome: a trial of exogenous melatonin treatment

Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients

Angelman syndrome: evolution of the phenotype in adolescents and adults

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